نتائج البحث - "Derek Butler"

المساهمون: Clinical Genetics, Cell biology, Hubrecht Institute for Developmental Biology and Stem Cell Research, Cardiovascular Centre (CVC), MUMC+: DA KG Lab Centraal Lab (9), Ondersteunend personeel CD, Groei & Ontwikkeling, RS: CARIM - R2 - Cardiac function and failure, Onderwijsontw & Onderwijsresearch, Genetica & Celbiologie, Klinische Genetica, RS: GROW - Developmental Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine, APH - Amsterdam Public Health, Other Research, Public and occupational health, Graduate School, ACS - Amsterdam Cardiovascular Sciences, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Human Genetics, ARD - Amsterdam Reproduction and Development, ANS - Amsterdam Neuroscience, Human genetics, ICaR - Ischemia and repair

المصدر: European Journal of Human Genetics, 23(9), 1142-1150
European Journal of Human Genetics, 23, 1270
European Journal of Human Genetics, 23(9), 1142-1150. Nature Publishing Group
European Journal of Human Genetics, 23(9). Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics, 23(9), 1142. Nature Publishing Group
European journal of human genetics, 23(9), 1142-1150. Nature Publishing Group
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 23, 9, pp. 1270
Vrijenhoek, T, Kraaijeveld, K, Elferink, M, de Ligt, J, Kranendonk, E, Santen, G, Nijman, I J, Butler, D, Claes, G, Costessi, A, Dorlijn, W, van Eyndhoven, W, Halley, D J J, van den Hout, M C G N, van Hove, S, Johansson, L F, Jongbloed, J D H, Kamps, R, Kockx, C E M, de Koning, B, Kriek, M, Deprez, R L D, Lunstroo, H, Mannens, M, Mook, O R, Nelen, M, Ploem, C, Rijnen, M, Saris, J J, Sinke, R, Sistermans, E A, van Slegtenhorst, M, Sleutels, F, van der Stoep, N, van Tienhoven, M, Vermaat, M, Vogel, M, Waisfisz, Q, Weiss, M M, van den Wijngaard, A, van Workum, W, Ijntema, H, van der Zwaag, B, van Ijcken, W F J, den Dunnen, J, Veltman, J A, Hennekam, R & Cuppen, E 2015, ' Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects ', European Journal of Human Genetics, vol. 23, no. 9, pp. 1142-1150 . https://doi.org/10.1038/ejhg.2014.279

مصطلحات موضوعية: MISSENSE MUTATIONS, Laboratory Proficiency Testing, Gene Expression, EXOME, VARIANTS, Bioinformatics, Genome, 0302 clinical medicine, Informed consent, Genetics(clinical), Medical diagnosis, Exome, Genetics (clinical), Netherlands, 0303 health sciences, Informed Consent, medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, MAP Kinase Kinase Kinases, 3. Good health, CARDIOVASCULAR-DISEASE, 030220 oncology & carcinogenesis, Medical genetics, HEALTH, Corrigendum, Cardiomyopathies, medicine.medical_specialty, Computational biology, Protein Serine-Threonine Kinases, Biology, DNA sequencing, Article, 03 medical and health sciences, Genetics, medicine, Humans, Medical physics, TECHNOLOGY, Genetic Testing, 030304 developmental biology, Genetic testing, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Myosin Heavy Chains, IDENTIFICATION, Genome, Human, MEDICINE, Calcium-Binding Proteins, Human genetics, DE-NOVO MUTATIONS, Mutation, Human genome, Carrier Proteins, Cardiac Myosins, MENTAL-RETARDATION