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: Moravej H; Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; Department of Pediatric Endocrinology and Metabolism, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran., Zamanfar D; Diabetes Research Center, Mazandaran University of Medical Sciences, Sari, Iran., Aghamahdi F; Department of Pediatric, Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran., Hashemipour M; Metabolic Liver Disease Research Center, Isfahan University of Medical Sciences, Isfahan, Iran., Mirrashidi FS; Department of Pediatric, Jiroft University of Medical Sciences, Jiroft, Iran., Ghaemi N; Department of Pediatric Endocrinology and Metabolism, Mashhad University of Medical Sciences, Mashhad, Iran., Eshraghi P; Department of Pediatric Endocrinology and Metabolism, Mashhad University of Medical Sciences, Mashhad, Iran., Ilkhanipoor H; Department of Pediatric Endocrinology and Metabolism, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address: h_ilkhani66@yahoo.com., Amirhakimi A; Department of Pediatric Endocrinology and Metabolism, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran., Yazdani N; Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Asl SN; Department of Pediatric Endocrinology and Metabolism, Mashhad University of Medical Sciences, Mashhad, Iran., Hashemian S; Department of Pediatric Diseases, Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Raoofat A; Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran., Vazirian MV; Pediatric Endocrinologist, Shafa Hospital, Kerman University of Medical Sciences, Kerman, Iran., Ebrahimzadeh H; Department of Pediatric Endocrinology and Metabolism, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

المصدر: Primary care diabetes [Prim Care Diabetes] 2021 Dec; Vol. 15 (6), pp. 1100-1103. Date of Electronic Publication: 2021 Sep 06.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101463825 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0210 (Electronic) Linking ISSN: 18780210 NLM ISO Abbreviation: Prim Care Diabetes Subsets: MEDLINE

مواضيع طبية MeSH: Celiac Disease*/diagnosis , Celiac Disease*/epidemiology , Diabetes Mellitus, Type 1*/diagnosis , Diabetes Mellitus, Type 1*/epidemiology, Humans ; Iran/epidemiology ; Referral and Consultation ; Retrospective Studies

المؤلفون: Asl SN; Department of Pediatric Disease, Faulty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Vakili R; Department of Pediatric Disease, Faulty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Vakili S; Department of Pediatric Disease, Faulty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Soheilipour F; Minimally Invasive Surgery Research Center, Rasoul-e-Akram Hospital, Iran University of Medical Science, Tehran, Iran., Hashemipour M; Isfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran., Ghahramani S; Department of Pediatric Disease, Faulty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., De Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Yaghootkar H; Genetics of Complex Traits, University of Exeter Medical School, Medical Research - Level 3, Royal Devon and Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK.

المصدر: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2019 Jun 26; Vol. 32 (6), pp. 607-613.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Biomarkers/*analysis , Diabetes Mellitus/*etiology , Diabetes Mellitus, Type 1/*complications , Epiphyses/*abnormalities , Infant, Newborn, Diseases/*etiology , Osteochondrodysplasias/*complications , eIF-2 Kinase/*genetics, Child ; Child, Preschool ; Consanguinity ; Diabetes Mellitus/diagnosis ; Diabetes Mellitus/epidemiology ; Female ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases/diagnosis ; Infant, Newborn, Diseases/epidemiology ; Iran/epidemiology ; Male ; Mutation ; Prognosis

SCR Disease Name: Diabetes Mellitus, Permanent Neonatal; Wolcott-Rallison syndrome

المؤلفون: Asl SN, Oehler M, Schilling M

المصدر: IEEE transactions on biomedical circuits and systems [IEEE Trans Biomed Circuits Syst] 2018 Aug; Vol. 12 (4), pp. 851-859. Date of Electronic Publication: 2018 Jun 13.

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

بيانات الدورية: Publisher: IEEE Country of Publication: United States NLM ID: 101312520 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1940-9990 (Electronic) Linking ISSN: 19324545 NLM ISO Abbreviation: IEEE Trans Biomed Circuits Syst Subsets: MEDLINE

مواضيع طبية MeSH: Electric Capacitance* , Electrodes*, Noise

المؤلفون: Maghami MR; Department of Electrical and Electronic Engineering, Faculty of Engineering, Universiti Putra Malaysia, 43400 Serdang, Malaysia., Asl SN; Department of Electrical and Electronic Engineering, Faculty of Engineering, Islamic Azad University, Damghan Branch, Damghan, Iran., Rezadad ME; Department of Mechanical Engineering, Faculty of Engineering, University of Malaya (UM), 50603 Kuala Lumpur, Malaysia., Ale Ebrahim N; Research Support Unit, Centre of Research Services, Institute of Research Management and Monitoring (IPPP), University of Malaya (UM), Kuala Lumpur, Malaysia., Gomes C; Department of Electrical and Electronic Engineering, Faculty of Engineering, Universiti Putra Malaysia, 43400 Serdang, Malaysia.

المصدر: Scientometrics [Scientometrics] 2015; Vol. 105 (2), pp. 759-771. Date of Electronic Publication: 2015 Sep 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Switzerland NLM ID: 7901197 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0138-9130 (Print) Linking ISSN: 01389130 NLM ISO Abbreviation: Scientometrics