المؤلفون: Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Ewida N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsahli S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Tala SA; Department of Pediatrics, Genetic Unit, Armed Forces Hospital Southern Region, Khamis Mushayt, Saudi Arabia., Alhashem A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Softah A; King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia., Al-Owain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alazami AM; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abadel B; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Patel N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Sheddi T; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alomar R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alobeid E; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Ibrahim N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abdulwahab F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hamad M; Division of Pediatric Neurology, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia., Tabarki B; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Alwadei AH; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Alhazzani F; Pediatrics Department, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Bashiri FA; Division of Pediatric Neurology, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia., Kentab A; Division of Pediatric Neurology, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia., Şahintürk S; Faculty of Medicine, Physiology Department, Bursa Uludag University, Bursa, Turkey., Sherr E; Department of Neurology, University of California, San Francisco, California, USA., Fregeau B; Department of Neurology, University of California, San Francisco, California, USA., Sogati S; Department of Medical Genetics, King Fahad General Hospital, Jeddah, Saudi Arabia., Alshahwan SAM; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Alkhalifi S; Maternity and Children Hospital, Dammam, Saudi Arabia., Alhumaidi Z; Maternity and Children Hospital, Dammam, Saudi Arabia., Temtamy S; Clinical Genetics Department, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Aglan M; Clinical Genetics Department, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Otaify G; Clinical Genetics Department, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, Egypt., Girisha KM; Department of Medical Genetics Kasturba Medical College, Manipal University (currently Manipal Academy of Higher Education), Manipal, India., Tulbah M; Department of obstetrics and gynecology king Faisal specialist hospital and research center, Riyadh, Saudi Arabia., Seidahmed MZ; Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia., Salih MA; Division of Pediatric Neurology, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia., Abouelhoda M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Momin AA; Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Saffar MA; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.; Division of Genetics and Genomics, Department of Medicine, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA., Partlow JN; Division of Genetics and Genomics, Department of Medicine, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA., Arold ST; Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Faqeih E; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Walsh C; Division of Genetics and Genomics, Department of Medicine, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Mar; Vol. 21 (3), pp. 545-552. Date of Electronic Publication: 2018 Sep 14.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Microcephaly/*genetics , Microcephaly/*physiopathology, Adult ; Child ; Child, Preschool ; Dwarfism/genetics ; Female ; Genomics/methods ; Genotype ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation/genetics ; Pedigree ; Phenotype ; Exome Sequencing/methods

SCR Disease Name: Microcephaly nonsyndromal

المؤلفون: Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., AlZahrani F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Anazi S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Almureikhi M; Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar., Ben-Omran T; Section of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar., Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Ibrahim N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Abdulwahab FM; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Meriki N; Department of Obstetrics and Gynecology, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Bashiri FA; Department of Pediatrics, College of Medicine & King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia., Thong MK; Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Muthukumarasamy P; Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Azwani Mazlan R; Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, 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.; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Jan; Vol. 20 (1), pp. 64-68. Date of Electronic Publication: 2017 Jun 22.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Genome, Human* , Genome-Wide Association Study*/methods , Genome-Wide Association Study*/standards , Genomics*/methods , Genomics*/standards , Loss of Function Mutation*, Alleles ; Facies ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genetics, Population ; Genotype ; Humans ; Phenotype ; Saudi Arabia

المؤلفون: Al-Qattan SM; Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Wakil SM; Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Anazi S; Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alazami AM; Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Patel N; Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Shaheen R; Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Shamseldin HE; Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hagos ST; Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., AlDossari HM; Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Salih MA; Division of Pediatric Neurology, Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia., El Khashab HY; Division of Pediatric Neurology, Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Department of Pediatrics, Children Hospital, Ain Shams University, Cairo, Egypt., Kentab AY; Division of Pediatric Neurology, Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia., AlNasser MN; Division of Pediatric Neurology, Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia., Bashiri FA; Division of Pediatric Neurology, Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia., Kaya N; Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hashem MO; Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alkuraya FS; Department of Genetics, Research Center, 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: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2015 Sep; Vol. 17 (9), pp. 719-25. Date of Electronic Publication: 2014 Dec 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Consanguinity*, Chromosome Disorders/*genetics , Neurocognitive Disorders/*genetics, Adolescent ; Adult ; Child ; Chromosome Aberrations ; Chromosome Disorders/diagnosis ; Chromosome Disorders/epidemiology ; DNA Copy Number Variations ; Developmental Disabilities ; Female ; Genetic Association Studies ; Humans ; Intellectual Disability/genetics ; Karyotyping/methods ; Male ; Neurocognitive Disorders/diagnosis ; Neurocognitive Disorders/epidemiology ; Phenotype ; Polymorphism, Single Nucleotide ; Retrospective Studies ; Saudi Arabia/epidemiology ; Young Adult