المؤلفون: Andrew P. VanDemark, Stacy L. Hrizo, Samantha L. Eicher, Jules Kowalski, Tracey D. Myers, Megan R. Pfeifer, Kacie N. Riley, Dwight D. Koeberl, Michael J. Palladino

المصدر: Disease Models & Mechanisms, Vol 15, Iss 5 (2022)

مصطلحات موضوعية: biochemistry, glycolytic dysfunction, structural biology, triosephosphate isomerase, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/15/5/dmm049261; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/6e587810fc2644ddac6db38219dae764

المؤلفون: Donna M. Martin, M. Katharine Rudd, Ankita Patel, John A. Bernat, Kacie N. Riley, Jeffrey W. Innis, Lisa M. Catalano, Stacie D. Adams, Rachel D. Burnside, Seema R. Lalani

المصدر: American journal of medical genetics. Part A. (11)

مصطلحات موضوعية: Male, Adolescent, DNA Copy Number Variations, Genetic counseling, Biology, Intellectual disability, Chromosome Duplication, Genetics, medicine, Attention deficit hyperactivity disorder, Humans, Copy-number variation, Child, Genetics (clinical), Infant, medicine.disease, Penetrance, Hypotonia, Pedigree, Autism spectrum disorder, Child, Preschool, Chromosomes, Human, Pair 2, Speech delay, Female, medicine.symptom, Chromosome Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::647f4719ac09eb7ea55b8012ad9d5636
https://pubmed.ncbi.nlm.nih.gov/26227573