المؤلفون: Zachary Whitt, Christina Vallianatos, Shigeki Iwase, Catherine Keegan, Kristen Lee

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100381- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423003813; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/95ba3304362141f38da14057c5fe7032

المؤلفون: Randall Beadling, Cristina da Silva, Matthew B. Harms, Tahseen Mozaffar, Zachary Whitt, Laura E. Rufibach, John J. Alexander, Matthew Wicklund, Syed Hussain Askree, Christin D. Collins, Lora J. H. Bean, Rashna S Dastur, Arunkanth Ankala, Samya Chakravorty, Plavi Mittal, Satish V Khadilkar, Akanchha Kesari, Pradnya S Gaitonde, Alice K. Tanner, Madhuri Hegde, Babi Ramesh Reddy Nallamilli, Thomas Schneider

المصدر: Annals of Clinical and Translational Neurology
Annals of clinical and translational neurology, vol 5, iss 12

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, medicine.medical_specialty, Weakness, Clinical Sciences, Disease, Loss of heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Genetic etiology, Internal medicine, Medicine, Research Articles, business.industry, General Neuroscience, Disease mechanisms, Neurosciences, 030104 developmental biology, Underlying disease, Disease Presentation, Cohort, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Research Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f38c102c2daccf0e20be92c7be195a62
https://doi.org/10.1002/acn3.649

المؤلفون: Alessandro Pontoglio, Lora J. H. Bean, Zachary Whitt, Lindsey Mighion, Madhuri Hegde, Zunyan Dai, Roberto Colombo

المصدر: European Journal of Medical Genetics. 60:312-316

مصطلحات موضوعية: 0301 basic medicine, Heterozygote, RNA Splicing, Population, Mutation, Missense, Disease, Biology, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genetics, Humans, Missense mutation, Abnormalities, Multiple, Exome, Genetic Testing, education, Gene, Genetics (clinical), Exome sequencing, Loss function, Arthrogryposis, Sanger sequencing, education.field_of_study, Myosin Heavy Chains, General Medicine, 030104 developmental biology, symbols, Trismus, 030217 neurology & neurosurgery, Common disease-common variant

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26e60cad53d837e684e217ed7e95b415
https://doi.org/10.1016/j.ejmg.2017.03.012

المؤلفون: Deborah Barbouth, Paige M. Kalika, Alberto Varon, Zachary Whitt, Katherina Walz, Lorraine Potocki

المصدر: American journal of medical genetics. Part A. 179(7)

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Potocki–Lupski syndrome, Chromosome Disorders, Disease, 030105 genetics & heredity, 03 medical and health sciences, Gene duplication, Chromosome Duplication, Genetics, medicine, Humans, Abnormalities, Multiple, Global developmental delay, Genetics (clinical), medicine.diagnostic_test, business.industry, Genetic disorder, Infant, Magnetic resonance imaging, medicine.disease, Arnold-Chiari Malformation, 030104 developmental biology, Failure to thrive, Female, medicine.symptom, business, Neurocognitive

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe0c371e2123687683b15c6e1055d5d6
https://pubmed.ncbi.nlm.nih.gov/31066191

المؤلفون: Brian Enjaian, Sarah Beth Bell, Zachary Whitt, C. Nathan DeWall

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c9e114ed2021b2e0af75ee01c2d55c87
https://doi.org/10.1017/9781316847992.016