Showing results (271-280 of 277) with videos related to
Sort By:
Pageof 28
You have reached the last page of results.This site can display upto 277 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 27, 2019
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrumEnrico D H Konrad, Niels Nardini, Almuth Caliebe, et al.Human Molecular Genetics|April 2, 2014
Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of ageJoris Deelen, Marian Beekman, Hae-Won Uh, et al.Human Mutation|May 28, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationMichael T Parsons, Emma Tudini, Hongyan Li, et al.Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.Human Mutation|February 16, 2018
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutationsTimothy R Rebbeck, Tara M Friebel, Eitan Friedman, et al.Cancer Research|November 15, 2019
Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and AggressivenessVivek L Patel, Evan L Busch, Tara M Friebel, et al.NPJ Breast Cancer|November 9, 2019
The <i>FANCM</i>:p.Arg658* truncating variant is associated with risk of triple-negative breast cancerGisella Figlioli, Massimo Bogliolo, Irene Catucci, et al.Pageof 28