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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 23, 2023
Dominant-negative variants in CBX1 cause a neurodevelopmental disorderYukiko Kuroda, Aiko Iwata-Otsubo, Kerith-Rae Dias, et al.Brain : a Journal of Neurology|June 26, 2026
RBMX functional retrocopy safeguards brain development in a species-dependent contextPierre Tilliole, Carolin Mattausch, Peggy Tilly, et al.Climatic Change|September 19, 2025
The attribution of human health outcomes to climate change: a transdisciplinary guidance documentK Ebi, A Haines, R F S Andrade, et al.Journal of Clinical Epidemiology|April 5, 2023
Development of an international glossary for clinical guidelines collaborationRachel E Christensen, Michael D Yi, Bianca Y Kang, et al.Medrxiv : the Preprint Server for Health Sciences|June 26, 2025
Analysis of <i>BRCA1</i>, <i>BRCA2</i> and <i>PALB2</i> related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotesSharon E Johnatty, Emma Tudini, Michael T Parsons, et al.American Journal of Human Genetics|October 31, 2025
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotesSharon E Johnatty, Emma Tudini, Michael T Parsons, et al.JAMA|June 24, 2020
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System, Sebastian Lunke, Stefanie Eggers, et al.American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.Pageof 20