المؤلفون: Emanuela Scarano, Tomasz Stokowy, Tzung-Chien Hsieh, Florian Erger, Janine Altmueller, Christian Gilissen, Gunnar Houge, Trine Prescott, Christian Kubisch, Andrea Bevot, Maria Redfors, Davor Lessel, Laura Mazzanti, Torunn Fiskerstrand, Angelika Riess, Dejan Đukić, Peter Krawitz, Cecilie F. Rustad, Christian Netzer, Itamar Jobani, Felix Marbach

المصدر: American Journal of Human Genetics, 104, 4, pp. 749-757
American Journal of Human Genetics, 104, 749-757

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Computational biology, Biology, 03 medical and health sciences, Progeria, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Artificial Intelligence, Report, Cell Line, Tumor, Genetics, medicine, Humans, Mass Screening, Supernumerary, Diagnosis, Computer-Assisted, Child, Gene, Genetics (clinical), Cell Nucleus, Genetic disorder, Membrane Proteins, Nuclear Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Syndrome, Geneticist, Fibroblasts, Prognosis, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Face, Mutation, Nuclear lamina, Intention tremor, medicine.symptom, Medical Informatics, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e979612262a8a27f16eb75d61eabdf7
https://doi.org/10.1016/j.ajhg.2019.02.021