المؤلفون: Al Shamsi AM, Hassan KV

المصدر: Pediatrics; Sep2008, Vol. 122 Issue 3, p675-676, 2p

المؤلفون: Iruzubieta P; Department of Neurogenetics, UCL Institute of Neurology London Queen Square and National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom; Department of Neurology, Donostia University Hospital, Biogipuzkoa Health Research Institute, Donostia-San Sebastián, Spain; CIBERNED, Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas-Instituto de Salud Carlos III (CIBER-CIBERNED-ISCIII), 28029, Madrid, Spain., Alves CAPF; Neuroradiology Division, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Division of Neuroradiology, Department of Radiology, Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA, 19104, USA., Al Shamsi AM; Genetic Division, Paediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates., ElGhazali G; Sheikh Khalifa Medical City, Purelab, Purehealth, Abu Dhabi, United Arab Emirates; College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, El-Tahrir Street, Dokki, Cairo, Egypt., Pinelli L; Neuroradiology Unit, Pediatric Neuroradiology Section, ASST SpedaliCivili, Brescia, Italy., Lopergolo D; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Cho BPH; Department of Clinical Neurosciences, University of Cambridge, United Kingdom., Jolly AA; Department of Clinical Neurosciences, University of Cambridge, United Kingdom., Al Futaisi A; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Oman., Al-Amrani F; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Oman., Galli J; Child Neurology and Psychiatry Unit, ASST SpedaliCivili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Fazzi E; Child Neurology and Psychiatry Unit, ASST SpedaliCivili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy., Vulin K; Department of Medical and Laboratory Genetics, ERN-Ithaca Zagreb Center, Children's Hospital Zagreb, Zagreb, Croatia; Centre of Excellence for Reproductive and Regenerative Medicine, Medical School University of Zagreb, Zagreb, Croatia., Barajas-Olmos F; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, SS, CDMX, Mexico., Hengel H; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany., Aljamal BM; Department of Translational Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia., Nasr V; Department of Neurology - Kermanshah Imam Reza (AS) Hospital Complex, Kermanshah University of Medical Sciences, Kermanshah, Iran., Assarzadegan F; Department of Neurology, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences(SBUMS), Tehran, Iran., Ragno M; Pianeta Salute, Viale Assisi, 88, 63084, Villa Pigna, Ascoli Piceno, Italy., Trojano L; Department of Psychology, University of Campania 'Luigi Vanvitelli', Viale Ellittico 31, 81100, Caserta, Italy., Ojeda NM; Rady Children's Institute for Genomic Medicine, University of California, San Diego, La Jolla, USA., Çakar A; Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093, Istanbul, Turkey., Bianchi S; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Pescini F; Department of Emergency, Stroke Unit, Careggi University Hospital, Florence, Italy; Department of NEUROFARBA, University of Florence, Florence, Italy., Poggesi A; Department of Emergency, Stroke Unit, Careggi University Hospital, Florence, Italy; Department of NEUROFARBA, University of Florence, Florence, Italy., Al Tenalji A; Sheikh Khalifa Medical City, Purelab, Purehealth, Abu Dhabi, United Arab Emirates., Aziz M; Sheikh Khalifa Medical City, Department of Pediatric Neurology, Abu Dhabi, United Arab Emirates., Mohammad R; Department of Neurogenetics, UCL Institute of Neurology London Queen Square and National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom., Chedrawi A; Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., De Stefano N; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055, Rostock, Germany., Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Rebelo A; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA., Koc F; Department of Neurology, Faculty of Medicine, Cukurova University, Adana, Turkey., Griffiths LR; Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, 60 Musk Ave, Kelvin Grove, QLD, 4059, Australia., Orozco L; Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, SS, CDMX, Mexico., Helmes KG; Department of Genetics, General Hospital - Dr. Aurelio Valdivieso, Oaxaca de Juárez, Oaxaca, Mexico., Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran., Bauer P; CENTOGENE GmbH, Am Strande 7, 18055, Rostock, Germany., Chan Jeong W; 3billion, Seoul, South Korea., Karimiani EG; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom., Schmidts M; Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, Mathildenstrasse 1, 79106, Freiburg, Germany; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany., Gleeson JG; Rady Children's Institute for Genomic Medicine, University of California, San Diego, La Jolla, USA., Chung WK; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, USA., Alkuraya FS; Department of Translational Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia., Shalbafan B; Cellular and Molecular Endocrine Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Markus HS; Department of Clinical Neurosciences, University of Cambridge, United Kingdom., Houlden H; Department of Neurogenetics, UCL Institute of Neurology London Queen Square and National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom., Maroofian R; Department of Neurogenetics, UCL Institute of Neurology London Queen Square and National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom. Electronic address: r.maroofian@ucl.ac.uk.

المصدر: EBioMedicine [EBioMedicine] 2024 Aug 26; Vol. 107, pp. 105297. Date of Electronic Publication: 2024 Aug 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE

المؤلفون: Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Kaiyrzhanov R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Cali E; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Ferla M; Wellcome Centre for Human Genetics, University of Oxford and Oxford NIHR Biomedical Research Centre, Oxford, OX3 7BN UK., Tortora D; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Saadi SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan., Abdullah U; University Institute of Biochemistry and Biotechnology, PMAS Arid Agriculture University, 46300 Rawalpindi, Pakistan., Karimiani EG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Yeşil G; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey., Alavi S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Al Shamsi AM; Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, UAE., Tajsharghi H; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, SE-541 28 Skovde, Sweden., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt., Saadi NW; College of Medicine, University of Baghdad, 10071 Baghdad, Iraq.; Children Welfare Teaching Hospital, 10071 Baghdad, Iraq., Al Mutairi F; Genetics and Precision Medicine department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia., Alabdi L; Department of Zoology, College of Science, King Saud University, 11421 Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 12713 Riyadh, Saudi Arabia., Beetz C; Centogene GmbH, 18055 Rostock, Germany., Ali Z; Department of Cellular and Molecular Medicine, WJC PANUM, University of Copenhagen, DK-1165 Copenhagen, Denmark.; Centre for Biotechnology and Microbiology, University of Swat, Swat 19120, Pakistan., Toosi MB; Pediatric Neurology Department Pediatric Ward Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria., Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran., Isohanni P; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland.; Department of Child Neurology, Children's Hospital, Paediatric Research Center, University of Helsinki and Helsinki University Hospital, 00014 Helsinki, Finland., Muhammad J; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Centre for Regenerative Medicine and Stem Cell Research, Juma Building, Aga Khan University, Karachi 74800, Pakistan., Khan S; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan., Al Shalan M; Genetics and Precision Medicine department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia., Hickey SE; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA., Marom D; Genetics Institute and Genomic Center, Tel Aviv Sourasky Medical Center, and Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel., Elhanan E; Nephro-Genetic Clinic, Nephrology Department and Genetics Institute, Tel Aviv Medical Center, Tel Aviv 64239, Israel., Kurian MA; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat 13110, Kuwait., Saberi A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran., Spaull R; Nephro-Genetic Clinic, Nephrology Department and Genetics Institute, Tel Aviv Medical Center, Tel Aviv 64239, Israel.; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK., Meng L; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK., Lalani S; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK., Maqbool S; Developmental-Behavioural Paediatrics Department, University of Child Health Sciences & The Children's Hospital, 54000 Lahore, Pakistan., Rahman F; Developmental-Behavioural Paediatrics Department, University of Child Health Sciences & The Children's Hospital, 54000 Lahore, Pakistan., Seeger J; Center for Social Pediatrics and Epilepsy Outpatient Clinic Frankfurt Mitte, 60316 Frankfurt am Main, Germany., Palculict TB; GeneDx, Gaithersburg, MD 20877, USA., Lau T; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Murphy D; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Mencacci NE; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland., Begemann A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland., Akbas S; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey., Aslanger AD; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey., Salpietro V; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Department of Biotechnological and Applied Clinical Sciences (DISCAB), University of L'Aquila, 67100 L'Aquila, Italy., Yousaf H; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan., Ben-Shachar S; Clalit Research Institute, Clalit Health Services, 6578898 Ramat Gan, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Ejeskär K; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, SE-541 28 Skovde, Sweden., Al Aqeel AI; Department of Pediatrics, Prince Sultan Military Medical City, 12233 Riyadh, Saudi Arabia.; American University of Beirut, 1107 2020 Beirut, Lebanon.; Alfaisal University, 11533 Riyadh, Saudi Arabia., High FA; Division of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.; Harvard Medical School, Boston, MA 02115, USA., Armstrong-Javors AE; Harvard Medical School, Boston, MA 02115, USA.; Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Zahraei SM; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Seifi T; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran., Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran., Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Diabetes Research center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Asl SN; Department of Pediatrics Endocrinology, Mashhad University of Medical Sciences, Mashhad, Iran., Shahrooei M; Specialized Immunology Laboratory of Dr Shahrooei, Sina Medical Complex, Ahvaz, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, 3000 Leuven, Belgium., Zifarelli G; Centogene GmbH, 18055 Rostock, Germany., Burglen L; Cerebellar Malformations and Congenital diseases Reference Center and Neurogenetics Lab, Department of Genetics, Armand Trousseau Hospital, AP-HP Sorbonne Université, 75006 Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, 75015 Paris, France., Ravelli C; Pediatric Neurology Department, Movement Disorders Center, Armand Trousseau Hospital, AP-HP Sorbonne Université, 75006 Paris, France., Zschocke J; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria., Schatz UA; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität Munich, 81675 Munich, Germany., Ghavideldarestani M; Hull York Medical School, Hull HU6 7RX, UK., Kamel WA; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Department of Neurology, Faculty of Medicine, Beni-Suef University, 62521 Beni Suef, Egypt., Van Esch H; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.; Laboratory for the Genetics of Cognition, Department of Human Genetics, KU Leuven-University of Leuven, 3000 Leuven, Belgium., Hackenberg A; Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, 8032 Zürich, Switzerland., Taylor JC; Wellcome Centre for Human Genetics, University of Oxford and Oxford NIHR Biomedical Research Centre, Oxford, OX3 7BN UK., Al-Gazali L; Departments of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, UAE., Bauer P; Centogene GmbH, 18055 Rostock, Germany., Gleeson JJ; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran., Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Chung WK; Boston Children's Hospital and Harvard Medical School Boston, MA 02115, USA., Baig SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, 74800 Karachi, Pakistan., Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.

المصدر: Brain : a journal of neurology [Brain] 2023 Dec 01; Vol. 146 (12), pp. 5031-5043.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy*/genetics , Neurodevelopmental Disorders*/genetics , Epilepsy, Generalized*/pathology , Movement Disorders*/diagnostic imaging , Movement Disorders*/genetics , Cataract*/genetics , Cataract*/pathology, Female ; Humans ; Infant ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Cerebellum/pathology ; Atrophy/pathology ; Phenotype ; Mediator Complex/genetics

المؤلفون: Abdelrahman HA; Department of Genetics and Genomics, College of Medicine and Heath Sciences, United Arab Emirates University Al-Ain, United Arab Emirates., Akawi N; Department of Genetics and Genomics, College of Medicine and Heath Sciences, United Arab Emirates University Al-Ain, United Arab Emirates., Al-Shamsi AM; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates., Al-Gazali L; Department of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates., Ali BR; Department of Genetics and Genomics, College of Medicine and Heath Sciences, United Arab Emirates University Al-Ain, United Arab Emirates.; Zayed Center for Health sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

المصدر: Journal of pediatric genetics [J Pediatr Genet] 2022 May 20; Vol. 13 (3), pp. 215-222. Date of Electronic Publication: 2022 May 20 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Thieme Country of Publication: Germany NLM ID: 101589859 Publication Model: eCollection Cited Medium: Print ISSN: 2146-4596 (Print) Linking ISSN: 2146460X NLM ISO Abbreviation: J Pediatr Genet Subsets: PubMed not MEDLINE

المؤلفون: Abdelrahman HA; Department of Genetics and Genomics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates., Akawi N; Department of Genetics and Genomics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates., Al-Shamsi AM; Paediatrics Department, Tawam hospital, Al-Ain, United Arab Emirates., Ali A; Department of Genetics and Genomics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates., Al-Jasmi F; Department of Genetics and Genomics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.; Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates., John A; Department of Genetics and Genomics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates., Hertecant J; Paediatrics Department, Tawam hospital, Al-Ain, United Arab Emirates., Al-Gazali L; Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates., Ali BR; Department of Genetics and Genomics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.; Zayed Center for Health sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

المصدر: Clinical genetics [Clin Genet] 2022 Apr; Vol. 101 (4), pp. 403-410. Date of Electronic Publication: 2022 Jan 08.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Cholestasis* , Heart Defects, Congenital*/genetics , Jaundice*, Matrix Metalloproteinase 15/*genetics, Animals ; Failure to Thrive/genetics ; Homozygote ; Humans ; Phenotype

المؤلفون: Bertoli-Avella AM; CENTOGENE AG, Rostock, Germany., Beetz C; CENTOGENE AG, Rostock, Germany., Ameziane N; CENTOGENE AG, Rostock, Germany., Rocha ME; CENTOGENE AG, Rostock, Germany., Guatibonza P; CENTOGENE AG, Rostock, Germany., Pereira C; CENTOGENE AG, Rostock, Germany., Calvo M; CENTOGENE AG, Rostock, Germany., Herrera-Ordonez N; CENTOGENE AG, Rostock, Germany., Segura-Castel M; CENTOGENE AG, Rostock, Germany., Diego-Alvarez D; CENTOGENE AG, Rostock, Germany., Zawada M; CENTOGENE AG, Rostock, Germany., Kandaswamy KK; CENTOGENE AG, Rostock, Germany., Werber M; CENTOGENE AG, Rostock, Germany., Paknia O; CENTOGENE AG, Rostock, Germany., Zielske S; CENTOGENE AG, Rostock, Germany., Ugrinovski D; CENTOGENE AG, Rostock, Germany., Warnack G; CENTOGENE AG, Rostock, Germany., Kampe K; CENTOGENE AG, Rostock, Germany., Iurașcu MI; CENTOGENE AG, Rostock, Germany., Cozma C; CENTOGENE AG, Rostock, Germany., Vogel F; CENTOGENE AG, Rostock, Germany., Alhashem A; Division of Pediatric Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Hertecant J; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates., Al-Shamsi AM; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates., Alswaid AF; Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Eyaid W; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia., Al Mutairi F; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia., Alfares A; Department of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi Arabia.; Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Albalwi MA; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.; Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Alfadhel M; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia., Al-Sannaa NA; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia., Reardon W; Clinical Genetics, Children's Health Ireland (CHI), Crumlin, Ireland., Alanay Y; Pediatric Genetics Division, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey., Rolfs A; CENTOGENE AG, Rostock, Germany.; University of Rostock, Rostock, Germany., Bauer P; CENTOGENE AG, Rostock, Germany. Peter.Bauer@centogene.com.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Jan; Vol. 29 (1), pp. 141-153. Date of Electronic Publication: 2020 Aug 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Diseases, Inborn/*diagnosis , Genetic Testing/*standards , Exome Sequencing/*standards, Adolescent ; Child ; Child, Preschool ; Female ; Gene Frequency ; Genetic Diseases, Inborn/epidemiology ; Genetic Diseases, Inborn/genetics ; Genetic Testing/statistics & numerical data ; Humans ; Infant ; Infant, Newborn ; Male ; Prenatal Diagnosis/standards ; Prenatal Diagnosis/statistics & numerical data ; Sensitivity and Specificity ; Exome Sequencing/statistics & numerical data

المؤلفون: Ben-Mahmoud A; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Al-Shamsi AM; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, P.O. Box 17666, Al Ain, United Arab Emirates., Ali BR; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.; Zayed Center for Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Al-Gazali L; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, P.O. Box 17666, Al Ain, United Arab Emirates. l.algazali@uaeu.ac.ae.

المصدر: Journal of molecular neuroscience : MN [J Mol Neurosci] 2020 Mar; Vol. 70 (3), pp. 320-327.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9002991 Publication Model: Print Cited Medium: Internet ISSN: 1559-1166 (Electronic) Linking ISSN: 08958696 NLM ISO Abbreviation: J Mol Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense*, Developmental Disabilities/*genetics , Intellectual Disability/*genetics, Child ; Developmental Disabilities/pathology ; HEK293 Cells ; HeLa Cells ; Humans ; Intellectual Disability/pathology ; Male ; Protein Transport

المؤلفون: Abdelrahman HA; College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates., Al-Shamsi AM; Paediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates., Ali BR; College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.; Zayed Center for Health sciences, United Arab Emirates University, Al-Ain, United Arab Emirates., Al-Gazali L; College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

المصدر: Clinical genetics [Clin Genet] 2018 Dec; Vol. 94 (6), pp. 586-587. Date of Electronic Publication: 2018 Oct 11.

نوع المنشور: Case Reports; Letter; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Variation*, Hydro-Lyases/*genetics , Intellectual Disability/*diagnosis , Intellectual Disability/*genetics , Neurodevelopmental Disorders/*diagnosis , Neurodevelopmental Disorders/*genetics, Alleles ; Brain/abnormalities ; Brain/diagnostic imaging ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Magnetic Resonance Imaging ; Pedigree

المؤلفون: Guissart C; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, 34093 Montpellier, France., Latypova X; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France., Rollier P; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares' (CRDI), Centre de référence anomalies du développement CLAD-Ouest, CHU Rennes, 35203 Rennes, France., Khan TN; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA., Stamberger H; Division of Neurology, University Hospital Antwerp (UZA), 2610 Antwerp, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, 2650 Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2650 Antwerp, Belgium., McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Cho MT; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Kjaergaard S; Chromosome Laboratory, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark., Weckhuysen S; Division of Neurology, University Hospital Antwerp (UZA), 2610 Antwerp, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, 2650 Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2650 Antwerp, Belgium., Lesca G; Service de génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, Université Claude Bernard Lyon 1, Lyon, France., Besnard T; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France., Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, 2 L.Puusepa street, Tartu 51014, Estonia., Schema L; University of Minnesota-Fairview, Minneapolis, MN 55454, USA., Chiocchetti AG; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main 60528, Germany., McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27710, USA., de Bellescize J; Epilepsy, Sleep and Pediatric Neurophysiology Department, Hospices Civils, Lyon, 69677 Bron, France., Vincent M; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France., Van Esch H; Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium., Sattler S; Carle Physician Group, Urbana, IL 61801, USA., Forghani I; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, 1501 NW 10th Avenue, BRB, room 359 (M-860), Miami, FL 33136, USA., Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA., Freitag CM; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main 60528, Germany., Barbouth DS; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, 1501 NW 10th Avenue, BRB, room 359 (M-860), Miami, FL 33136, USA., Cadieux-Dion M; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA., Willaert R; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Guillen Sacoto MJ; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Safina NP; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108, USA., Dubourg C; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France., Grote L; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108, USA., Carré W; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France., Saunders C; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA., Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, 2 L.Puusepa street, Tartu 51014, Estonia., Farrow E; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA., Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, DRF, CEA, Evry, France., Karlowicz DH; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27710, USA., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, DRF, CEA, Evry, France., Wojcik MH; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Pressman R; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, 1501 NW 10th Avenue, BRB, room 359 (M-860), Miami, FL 33136, USA., Isidor B; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France., Vogels A; Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium., Van Paesschen W; Department of Neurology, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium., Al-Gazali L; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al Ain, United Arab Emirates., Al Shamsi AM; Department of Paediatrics, Tawam Hospital, PO Box 15258, Al-Ain, United Arab Emirates., Claustres M; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, 34093 Montpellier, France., Pujol A; Neurometabolic Diseases Laboratory, IDIBELL, Gran Via, 199, L'Hospitalet de Llobregat, 08908 Barcelona, and CIBERER U759, Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain, Catalan Institution of Research and Advanced Studies (ICREA), 08010 Barcelona, Spain., Sanders SJ; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA., Rivier F; Department of Neuropaediatrics and CR Maladies Neuromusculaires, CHU Montpellier, PhyMedExp, INSERM, CNRS, University of Montpellier, Montpellier, France., Leboucq N; Neuroradiologie, CHU de Montpellier, 34090 Montpellier, France., Cogné B; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France., Sasorith S; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, 34093 Montpellier, France., Sanlaville D; Service de génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, Université Claude Bernard Lyon 1, Lyon, France., Retterer K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Odent S; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares' (CRDI), Centre de référence anomalies du développement CLAD-Ouest, CHU Rennes, 35203 Rennes, France; CNRS UMR 6290, Université de Rennes, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France., Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA., Bézieau S; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France., Koenig M; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, 34093 Montpellier, France., Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA. Electronic address: erica.davis@duke.edu., Pasquier L; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares' (CRDI), Centre de référence anomalies du développement CLAD-Ouest, CHU Rennes, 35203 Rennes, France., Küry S; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr.

المصدر: American journal of human genetics [Am J Hum Genet] 2018 May 03; Vol. 102 (5), pp. 744-759. Date of Electronic Publication: 2018 Apr 12.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Dominant*, Autistic Disorder/*genetics , Cerebellar Ataxia/*genetics , Intellectual Disability/*genetics , Mutation, Missense/*genetics , Nuclear Receptor Subfamily 1, Group F, Member 1/*genetics, Adolescent ; Adult ; Aged, 80 and over ; Alleles ; Animals ; Autistic Disorder/complications ; Brain/pathology ; Cerebellar Ataxia/complications ; Child ; Child, Preschool ; DNA Copy Number Variations/genetics ; Disease Models, Animal ; Female ; Genetic Complementation Test ; Humans ; Intellectual Disability/complications ; Larva/genetics ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Purkinje Cells/metabolism ; Purkinje Cells/pathology ; Syndrome ; Zebrafish/genetics

المؤلفون: Baldi C; Centogene AG, Rostock, Germany., Bertoli-Avella AM; Centogene AG, Rostock, Germany., Al-Sannaa N; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia., Alfadhel M; King Abdullah International Medical Research Centre, King Saud Bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia., Al-Thihli K; Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman., Alameer S; King Saud Bin Abdulaziz University for Health Sciences, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA), Jeddah, Saudi Arabia., Elmonairy AA; Kuwait Medical Genetics Center, Kuwait., Al Shamsi AM; Department of Paediatrics, Tawam Hospital, Al-Ain, United Arab Emirates., Abdelrahman HA; Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University Al Ain, Al-Ain, United Arab Emirates., Al-Gazali L; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University Al Ain, United Arab Emirates., Shawli A; King Saud Bin Abdulaziz University for Health Sciences, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA), Jeddah, Saudi Arabia.; Molecular Medicine Section, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia., Al-Hakami F; Molecular Medicine Section, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.; Molecular Medicine Section, King Abdulaziz Medical City-WR, Jeddah, Saudi Arabia., Yavuz H; Centogene AG, Rostock, Germany., Kandaswamy KK; Centogene AG, Rostock, Germany., Rolfs A; Centogene AG, Rostock, Germany.; Albrecht-Kossel-Institute for Neuroregeneration, Medical University Rostock, Rostock, Germany., Brandau O; Centogene AG, Rostock, Germany., Bauer P; Centogene AG, Rostock, Germany.

المصدر: Clinical genetics [Clin Genet] 2018 May; Vol. 93 (5), pp. 1087-1092.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, Hereditary Central Nervous System Demyelinating Diseases/*genetics , Homeodomain Proteins/*genetics , Seizures/*genetics, Adolescent ; Child ; Child, Preschool ; Exome/genetics ; Female ; Genetic Association Studies ; Genetic Heterogeneity ; Hereditary Central Nervous System Demyelinating Diseases/physiopathology ; Homozygote ; Humans ; Infant ; Male ; Mutation ; Phenotype ; Seizures/physiopathology ; White Matter/pathology ; Exome Sequencing ; Whole Genome Sequencing