المؤلفون: El-Hattab, Ayman W., Almannai, Mohammed, Scaglia, Fernando

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2017 5

مصطلحات موضوعية: stroke-like episodes, nitric oxide (NO), mitochondrial diseases, stable isotope, encephalomyopathy, lactic acidosis

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100704

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Harms, Frederike Leonie, Girisha, Katta M, Hardigan, Andrew A, Kortüm, Fanny, Shukla, Anju, Alawi, Malik, Dalal, Ashwin, Brady, Lauren, Tarnopolsky, Mark, Bird, Lynne M, Ceulemans, Sophia, Bebin, Martina, Bowling, Kevin M, Hiatt, Susan M, Lose, Edward J, Primiano, Michelle, Chung, Wendy K, Juusola, Jane, Akdemir, Zeynep C, Bainbridge, Matthew, Charng, Wu-Lin, Drummond-Borg, Margaret, Eldomery, Mohammad K, El-Hattab, Ayman W, Saleh, Mohammed AM, Bézieau, Stéphane, Cogné, Benjamin, Isidor, Bertrand, Küry, Sébastien, Lupski, James R, Myers, Richard M, Cooper, Gregory M, Kutsche, Kerstin

المصدر: American Journal of Human Genetics. 100(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Biotechnology, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, 2.1 Biological and endogenous factors, Aetiology, Generic health relevance, Adolescent, Adult, Amino Acid Substitution, Ataxia, Child, Child, Preschool, Chromatin, Cyclin-Dependent Kinase Inhibitor p21, Developmental Disabilities, Exome, Face, Female, Gene Expression Regulation, Genes, Reporter, HEK293 Cells, Humans, Intellectual Disability, Language Development Disorders, Male, Models, Molecular, Mosaicism, Mutation, Neurodevelopmental Disorders, Protein Transport, Syndrome, Transcription Factors, Transcription, Genetic, EBF3, de novo mutation, developmental delay, gene regulation, intellectual disability, transcription factor, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4d8839q1

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: El-Hattab, Ayman W, Schaaf, Christian P, Fang, Ping, Roeder, Elizabeth, Kimonis, Virginia E, Church, Joseph A, Patel, Ankita, Cheung, Sau Wai

المصدر: BMC Medical Genomics. 16(1)

مصطلحات موضوعية: Brain Disorders, Behavioral and Social Science, Pediatric, Mental Health, Prevention, Intellectual and Developmental Disabilities (IDD), Basic Behavioral and Social Science, Genetics, Aetiology, 2.1 Biological and endogenous factors, Mental health, Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Chromosome Duplication, Chromosomes, Human, X, Female, Humans, Infant, Introns, Male, Middle Aged, Pedigree, Sex Chromosome Disorders, X Chromosome Inactivation, Young Adult, Chromosomal rearrangements, X-linked intellectual disability, Chromosomal microarray analysis, Medical Biochemistry and Metabolomics, Oncology and Carcinogenesis, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4v5454tk

المؤلفون: Meilleur, Katherine G, Zukosky, Kristen, Medne, Livija, Fequiere, Pierre, Powell-Hamilton, Nina, Winder, Thomas L, Alsaman, Abdulaziz, El-Hattab, Ayman W, Dastgir, Jahannaz, Hu, Ying, Donkervoort, Sandra, Golden, Jeffrey A, Eagle, Ralph, Finkel, Richard, Scavina, Mena, Hood, Ian C, Rorke-Adams, Lucy B, Bönnemann, Carsten G

المصدر: Journal of Neuropathology & Experimental Neurology. 73(5)

مصطلحات موضوعية: Neurodegenerative, Pediatric, Genetics, Muscular Dystrophy, Congenital Structural Anomalies, Neurosciences, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Congenital, Child, Child, Preschool, Dystroglycans, Fatal Outcome, Female, Homozygote, Humans, Infant, Male, Muscular Dystrophies, Mutation, N-Acetylglucosaminyltransferases, Pedigree, Polymorphism, Single Nucleotide, Clinical Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5481f47b

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.