نتائج البحث - "Adnan Y Manzur"

المساهمون: Clinical Cognitive Neuropsychiatry Research Program (CCNP), Neurology, Laboratory Genetic Metabolic Diseases, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ASLANGER, Ayça Dilruba, Université de Strasbourg (UNISTRA), MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D)

المصدر: American Journal of Human Genetics, 107, 2, pp. 311-324
American Journal of Human Genetics, 107(2), 311-324. CELL PRESS
American journal of human genetics, 107(2), 311-324. Cell Press
American Journal of Human Genetics, 107, 311-324
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (2), pp.311-324. ⟨10.1016/j.ajhg.2020.06.016⟩
American Journal of Human Genetics, 107(2), 311-324. Cell Press
Manole, A, Efthymiou, S, O'Connor, E, Mendes, M I, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, M R, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, C S, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, L B, Kara, B, Aslanger, A D, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, K M, Wang, L, Rosti, R O, Paracha, S A, Sarwar, M T, Jenkins, D, Ahmed, J, Santoni, F A, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, I M, Guillen Sacoto, M J, Si, Y, Telegrafi, A, Andrews, M V, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, A J M, Stevens, S J C, Bähler, J, Nasar, A, Mantovani, J F, Manzur, A, Sarkozy, A, Smith, D E C, Salomons, G S, Ahmed, Z M, Riazuddin, S, Riazuddin, S, Usmani, M A, Seibt, A, Ansar, M, Antonarakis, S E, Vincent, J B, Ayub, M, Grimmel, M, Jelsig, A M, Hjortshøj, T D, Karstensen, H G, Hummel, M, Haack, T B, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, J G, Becker, H, Mandel, J L, Koolen, D A, Houlden, H & SYNAPS Study Group 2020, ' De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects ', American journal of human genetics, vol. 107, no. 2, pp. 311-324 . https://doi.org/10.1016/j.ajhg.2020.06.016Test
Am J Hum Genet

مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Developmental delay, [SDV]Life Sciences [q-bio], Aspartate-tRNA Ligase, TRANSFER-RNA SYNTHETASE, RNA, Transfer, Amino Acyl, 0302 clinical medicine, RNA, Transfer, Loss of Function Mutation, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), next generation sequencing, chemistry.chemical_classification, Genetics, neurodevelopment, Stem Cells, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Neural stem cell, Pedigree, Amino acid, developmental delay, Gain of Function Mutation, Transfer RNA, Female, Amino Acyl, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], EXPRESSION, Ataxia, Biology, Article, Cell Line, Amino Acyl-tRNA Synthetases, 03 medical and health sciences, aminoacyl-tRNA synthetase, epilepsy, neuropathy, Alleles, Genetic Predisposition to Disease, Humans, Neurodevelopmental Disorders, 2 SIBLINGS, medicine, Allele, Epilepsy, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, medicine.disease, Transfer, 030104 developmental biology, Enzyme, chemistry, Aminoacyl-tRNA synthetase, RNA, 030217 neurology & neurosurgery, Function (biology)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a52bcefda63010f9428f83b46704ce25Test
https://doi.org/10.1016/j.ajhg.2020.06.016Test

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