Showing results (181-190 of 191) with videos related to
Sort By:
Pageof 20
American Journal of Human Genetics|February 27, 2018
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic DisorderMonika Oláhová, Wan Hee Yoon, Kyle Thompson, et al.Science (New York, N.Y.)|May 6, 2003
The Genome sequence of the SARS-associated coronavirusMarco A Marra, Steven J M Jones, Caroline R Astell, et al.Nature|July 3, 2025
The Somatic Mosaicism across Human Tissues NetworkTim H H Coorens, Ji Won Oh, Yujin Angelina Choi, et al.The New England Journal of Medicine|April 27, 2017
Overexpression of the Cytokine BAFF and Autoimmunity RiskMaristella Steri, Valeria Orrù, M Laura Idda, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.Nature|August 2, 2023
Africa-specific human genetic variation near CHD1L associates with HIV-1 loadPaul J McLaren, Immacolata Porreca, Gennaro Iaconis, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2022
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomesAna S A Cohen, Emily G Farrow, Ahmed T Abdelmoity, et al.Nature|September 3, 2010
Integrating common and rare genetic variation in diverse human populations, David M Altshuler, Richard A Gibbs, et al.Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disordersYuyang Chen, Ruebena Dawes, Hyung Chul Kim, 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