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المؤلفون: Mais Hashem, Moeenaldeen Al-Sayed, Mohamed H Al-Hamed, Maha Alnemer, Wenkai Han, Mohamed Tohary, Yongkang Long, Almundher Al-Maawali, Feisal Al Mahrizi, Xin Gao, Khalid Al-Thihli, Fowzan S. Alkuraya, Hiroyuki Kuwahara, Gabrielle Lemire, Lana Fathi, Kym M. Boycott, Fatema Alzahrani, Mohammed Al-Owain, Mohammed Mahnashi
المصدر: Am J Hum Genet
مصطلحات موضوعية: Heart Defects, Congenital, Male, Microcephaly, Adolescent, Genetic Linkage, Developmental Disabilities, Nonsense-mediated decay, RNA-Seq, Biology, 03 medical and health sciences, Consanguinity, Young Adult, 0302 clinical medicine, Report, Intellectual disability, Genetics, medicine, Humans, Global developmental delay, RNA, Messenger, Kinase activity, Phosphorylation, Child, Genetics (clinical), 030304 developmental biology, Family Health, 0303 health sciences, Homozygote, Intracellular Signaling Peptides and Proteins, Brain, Infant, medicine.disease, Phenotype, Nonsense Mediated mRNA Decay, Pedigree, Child, Preschool, Trans-Activators, Female, 030217 neurology & neurosurgery, Gene Deletion, RNA Helicases
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d05bc8b341849e7dbd6893d056a55a8e
https://pubmed.ncbi.nlm.nih.gov/33242396 -
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المؤلفون: Naomi Meeks, Stefan Kindler, Anya Revah-Politi, Alexander P.A. Stegmann, Vinodh Narayanan, Dominique Bonneau, Claudia Schob, Jill A. Rosenfeld, Jennifer E. Posey, Tim M. Strom, LaDonna Immken, Tjitske Kleefstra, Jolanda H. Schieving, Katherine L. Helbig, Estelle Colin, Magalie Barth, Tamar Harel, Matthew J. Huentelman, James R. Lupski, Benjamin Cogné, Han G. Brunner, Yaping Yang, Sébastien Küry, Jenny Morton, Erica H. Gerkes, Keri Ramsey, Marine Tessarech, Zeynep Coban-Akdemir, Shimon Edvardson, Hans-Jürgen Kreienkamp, Nelly Oundjian, Davor Lessel, Christian Kubisch, Thomas Besnard, Jonas Denecke, Orly Elpeleg, Ana M. Claasen, Kelsey Zegar, Mohammad K. Eldomery, Sandra Mercier, Margot R.F. Reijnders, Stéphane Bézieau
المساهمون: Univ Angers, Okina, MUMC+: DA KG Lab Centraal Lab (9), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5), Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
المصدر: American Journal of Human Genetics, 101(5), 716-724. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102, pp.196
American Journal of Human Genetics, 101(5), 716-724. CELL PRESS
American Journal of Human Genetics, 101, 5, pp. 716-724
Am. J. Hum. Genet. 101, 716-724 (2017)
American Journal of Human Genetics, 101, 716-724مصطلحات موضوعية: 0301 basic medicine, Central Nervous System, Male, DISRUPTION, INTELLECTUAL DISABILITY, Developmental Disabilities, PROTEIN, DISEASE, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, Missense mutation, Global developmental delay, Amino Acids, Child, Genetics (clinical), Genetics, Adenosine Triphosphatases, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Translation (biology), Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], 3. Good health, FAMILY, Child, Preschool, Female, RNA Helicases, MODULE, Adolescent, Mutation, Missense, RNA GRANULES, Biology, Article, Cell Line, 03 medical and health sciences, Stress granule, Cell Line, Tumor, medicine, Humans, HELICASE, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], STRESS GRANULES, Helicase, RNA, Correction, medicine.disease, GENE, 030104 developmental biology, HEK293 Cells, biology.protein, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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