المؤلفون: Almannai M; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo, Egypt., Maroofian R; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Efthymiou S; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Saadi NW; College of Medicine, University of Baghdad, Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq., Filimban B; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Dafsari HS; Department of Pediatrics, Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Randall Centre for Cell and Molecular Biophysics, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Max-Planck-Institute for Biology of Ageing, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), Cologne, Germany., Rahman F; Department of Developmental - Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan., Maqbool S; Department of Developmental - Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan., Faqeih E; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Al Mutairi F; Genetics and Precision Medicine department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., Alsharhan H; Department of Pediatrics, College of Medicine, Kuwait University, Safat, Kuwait.; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait.; Kuwait Medical Genetics Center, Ministry of Health, Sulaibikhat, Kuwait.; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Abdelaty O; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Bin-Hasan S; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Noureldeen MM; Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt., Alqattan A; Department of Pediatrics, Farwaniya Hospital, Ministry of Health, Sabah Al-Nasser, Kuwait., Houlden H; Department of Neuromuscular disorders, UCL Queen Square Institute of Neurology, University College London, London, UK., Hunter JV; Texas Children Hospital, Houston, Texas, USA.; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., El-Hattab AW; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.; Genetics Clinics, University Hospital Sharjah, Sharjah, United Arab Emirates.

المصدر: Clinical genetics [Clin Genet] 2024 Jun; Vol. 105 (6), pp. 620-629. Date of Electronic Publication: 2024 Feb 14.

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: Neurodevelopmental Disorders*/genetics , Neurodevelopmental Disorders*/pathology , Phenotype*, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Brain/diagnostic imaging ; Brain/pathology ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Genetic Association Studies ; Genetic Predisposition to Disease ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Mutation ; Pedigree

المؤلفون: Al Ojaimi M; College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.; Pediatrics Department, University Hospital Sharjah, Sharjah, United Arab Emirates., Banimortada BJ; College of Medicine, University of Sharjah, Sharjah, United Arab Emirates., Othman A; Department of Medical Genetics, Hamad Medical Corporation, Doha, Qatar., Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Almannai M; Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia., El-Hattab AW; College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.; Pediatrics Department, University Hospital Sharjah, Sharjah, United Arab Emirates.; Genetics and Metabolic Department, KidsHeart Medical Center, Abu Dhabi, United Arab Emirates.

المصدر: Clinical genetics [Clin Genet] 2022 Sep; Vol. 102 (3), pp. 169-181. Date of Electronic Publication: 2022 Jul 06.

نوع المنشور: Journal Article; Review

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: Histones*/genetics , Histones*/metabolism , Lysine*/chemistry , Lysine*/genetics , Lysine*/metabolism, Histone Demethylases/genetics ; Histone Methyltransferases/metabolism ; Histone-Lysine N-Methyltransferase/genetics ; Humans ; Methylation ; Syndrome

المؤلفون: Salah A; Department of Pediatrics, University Hospital Sharjah, Sharjah, United Arab Emirates., Almannai M; Department of Genetics and Precision Medicine, King Abdullah Specialized Children's Hospital, Riyadh, Saudi Arabia., Al Ojaimi M; College of Medicine, University of Sharjah, Sharjah, United Arab Emirates., Radefeldt M; Centogene GmbH, Rostock, Germany., Gulati N; Centogene GmbH, Rostock, Germany., Iqbal M; Centogene GmbH, Rostock, Germany., Alawbathani S; Centogene GmbH, Rostock, Germany., Al-Ali R; Centogene GmbH, Rostock, Germany., Beetz C; Centogene GmbH, Rostock, Germany., El-Hattab AW; College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.; Department of Clinical Genetics, University Hospital Sharjah, Sharjah, United Arab Emirates.

المصدر: Clinical genetics [Clin Genet] 2022 May; Vol. 101 (5-6), pp. 565-570. Date of Electronic Publication: 2022 Mar 13.

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: Intellectual Disability*/genetics , Urogenital Abnormalities*, Child ; Developmental Disabilities/genetics ; Female ; Homozygote ; Humans ; Male ; Muscle Hypotonia/genetics ; Pedigree ; Phenotype ; Exome Sequencing

المؤلفون: Almannai M; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait., Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre, Cairo, Egypt.; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo, Egypt., Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Calame D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Levesque F; Division of Medical Genetics and Metabolic, Department of Paediatrics, Jim Pattison Children's Hospital, University of Saskatchewan, Saskatoon, Canada., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre, Cairo, Egypt., Hegazy I; Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre, Cairo, Egypt., Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.; Departments of Medicine, Columbia University Irving Medical Center, New York, New York, USA., Kavus H; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA., Saeidi K; Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman, Iran., Maroofian R; UCL Queen Square Institute of Neurology, University College London, London, UK., AlHashim A; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Al-Otaibi A; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Al Madhi A; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Abou Al-Seood HM; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Alasmari A; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Houlden H; UCL Queen Square Institute of Neurology, University College London, London, UK., Gleeson JG; Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, California, USA., Hunter JV; E.B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, Texas, USA.; Department of Radiology, Baylor College of Medicine, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., El-Hattab AW; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.; Genetics Clinics, University Hospital Sharjah, Sharjah, United Arab Emirates.

المصدر: Clinical genetics [Clin Genet] 2022 May; Vol. 101 (5-6), pp. 530-540. Date of Electronic Publication: 2022 Apr 12.

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

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: Microcephaly*/diagnostic imaging , Microcephaly*/genetics , Microcephaly*/pathology , Nervous System Malformations*, Atrophy ; Bone Diseases, Metabolic ; Congenital Disorders of Glycosylation ; Homozygote ; Humans ; Pedigree ; Phenotype ; Quadriplegia/genetics ; Seizures/diagnostic imaging ; Seizures/genetics

SCR Disease Name: Congenital disorder of glycosylation type 2A

المؤلفون: Almannai M; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Alasmari A; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Alqasmi A; Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia., Faqeih E; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Al Mutairi F; Medical Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Alotaibi M; Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia., Samman MM; Pathology and Clinical Laboratory Administration, Section of Molecular Pathology, King Fahad Medical City, Riyadh, Saudi Arabia., Eyaid W; Medical Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia., Aljadhai YI; Department of Neuroimaging and Intervention, Medical Imaging Administration, King Fahad Medical City, Riyadh, Saudi Arabia., Shamseldin HE; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Craigen W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.

المصدر: Clinical genetics [Clin Genet] 2018 May; Vol. 93 (5), pp. 1097-1102. Date of Electronic Publication: 2018 Mar 25.

نوع المنشور: Journal Article

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: Acidosis, Lactic/*genetics , Mitochondrial Encephalomyopathies/*genetics , Mitochondrial Myopathies/*genetics , Nucleotide Transport Proteins/*genetics, Acidosis, Lactic/pathology ; Adolescent ; Adult ; Child ; Child, Preschool ; DNA, Mitochondrial ; Female ; Humans ; Infant ; Male ; Mitochondria/genetics ; Mitochondria/pathology ; Mitochondrial Encephalomyopathies/complications ; Mitochondrial Encephalomyopathies/pathology ; Mitochondrial Myopathies/pathology ; Pedigree ; Phenotype ; Point Mutation ; Young Adult

المؤلفون: Faqeih EA; Section of Medial Genetics, Department of Pediatrics Subspecialties, Children's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Almannai M; Section of Medial Genetics, Department of Pediatrics Subspecialties, Children's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Saleh MM; Section of Medial Genetics, Department of Pediatrics Subspecialties, Children's Specialized Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., AlWadei AH; Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Samman MM; Pathology and Clinical Laboratory Administration, Section of Molecular Pathology, King Fahad Medical City, Riyadh, Saudi Arabia., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

المصدر: Clinical genetics [Clin Genet] 2018 May; Vol. 93 (5), pp. 1081-1086. Date of Electronic Publication: 2018 Mar 15.

نوع المنشور: Journal Article

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: Exome Sequencing*, Dandy-Walker Syndrome/*genetics , Potassium Channels/*genetics , Spasms, Infantile/*genetics, Alleles ; Cerebellum/abnormalities ; Cerebellum/diagnostic imaging ; Cerebellum/pathology ; Child ; Child, Preschool ; Dandy-Walker Syndrome/diagnostic imaging ; Dandy-Walker Syndrome/pathology ; Female ; Genetic Predisposition to Disease ; Humans ; Hydrocephalus/diagnostic imaging ; Hydrocephalus/pathology ; Infant ; Loss of Function Mutation/genetics ; Male ; Mutation ; Phenotype ; Spasms, Infantile/diagnostic imaging ; Spasms, Infantile/pathology

SCR Disease Name: Infantile Epileptic-Dyskinetic Encephalopathy