المؤلفون: Stephanie Efthymiou, Julien Buratti, Farah Bibi, Omar Dabbagh, Perrine Charles, Julia Hoefele, Kristi J. Jones, Enrico Mingardo, Jeshurun C Kalanithy, Matias Wagner, Hessa S. Alsaif, Konrad Platzer, Henry Houlden, Jaya Punetha, Sandra T. Cooper, Jennifer E. Posey, Tikam Chand Dakal, Leigh B. Waddell, Holger Thiele, Elise Valkanas, Davut Pehlivan, Zeynep Coban Akdemir, Beth Hudson, Shahzad Haider, Haktan Bağış Erdem, Jawid M Fatih, Fowzan S. Alkuraya, Solveig Heide, Andreas Ziegler, Michelle Demos, Heiko Reutter, Paul R Mark, Dana Marafi, Vincenzo Salpietro, Steffen Syrbe, Meriel McEntagart, Delphine Héron, Ilaria Guella, Jennifer Burton, James R. Lupski, Natalia Dominik, Daniel G. MacArthur, Tipu Sultan, Wendy K. Chung, Annalisa Vetro, Ender Karaca, George E. Hoganson, Rhonda E. Schnur, Bhanupriya Dhabhai, Sarah A. O'Shea, Tadahiro Mitani, Volkan Okur, Emily C. Oates, Tobias T. Lindenberg, Renzo Guerrini, Benjamin Odermatt, Gabriel C. Dworschak, Öznur Yilmaz, Jill V. Hunter, Shalini N. Jhangiani, Boris Keren, Korbinian M. Riedhammer, Caroline Nava, Stanley Fahn, Reza Maroofian, Roy N. Alcalay

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Central nervous system, Nerve Tissue Proteins, Receptors, Cell Surface, Article, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Homologous chromosome, medicine, Missense mutation, Animals, Humans, Global developmental delay, Eye Abnormalities, Zebrafish, Genetics (clinical), Genetic Association Studies, Genetics, biology, biology.organism_classification, medicine.disease, Embryonic stem cell, Phenotype, ddc, 030104 developmental biology, medicine.anatomical_structure, Neurodevelopmental Disorders, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38e56db81ddbe17b5bcfd5001ed9ed19Test
https://pubmed.ncbi.nlm.nih.gov/34054129Test

المؤلفون: Cornelius F. Boerkoel, William A. Gahl, Rosemarie Rupps, David R. Adams, Elise Valkanas, Camilo Toro, Christèle du Souich, May Christine V. Malicdan, Katherine E. Schaffer, Christopher Dunham, Alireza Baradaran-Heravi, Valerie Maduro, Elise D. Flynn

المصدر: American Journal of Medical Genetics Part A. 170:3106-3114

مصطلحات موضوعية: 0301 basic medicine, Developmental Disabilities, RNA Stability, Nonsense-mediated decay, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Exome, Genetic Predisposition to Disease, Global developmental delay, Child, Genetics (clinical), Loss function, Exome sequencing, Paraplegia, Siblings, High-Throughput Nucleotide Sequencing, Membrane Proteins, Phenotype, Failure to Thrive, 030104 developmental biology, Membrane protein, Child, Preschool, Failure to thrive, Female, medicine.symptom, Carrier Proteins, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46b6d57b71a0e48d9b8cae83f2816912Test
https://doi.org/10.1002/ajmg.a.37929Test