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Plos One|January 4, 2013
Estimation of copy number alterations from exome sequencing dataRafael Valdés-Mas, Silvia Bea, Diana A Puente, et al.
BMC Medical Genetics|June 3, 2014
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndromeClea Bárcena, Víctor Quesada, Annachiara De Sandre-Giovannoli, et al.
Nature Communications|October 30, 2014
Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathyRafael Valdés-Mas, Ana Gutiérrez-Fernández, Juan Gómez, et al.
Human Reproduction (Oxford, England)|November 10, 2016
Sequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypesPatrícia Isabel Marques, Filipa Fonseca, Ana Sofia Carvalho, et al.
American Journal of Human Genetics|May 10, 2011
Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndromeXose S Puente, Victor Quesada, Fernando G Osorio, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2015
POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillanceFernando Bellido, Marta Pineda, Gemma Aiza, et al.
Blood|September 6, 2018
Altered patterns of global protein synthesis and translational fidelity in RPS15-mutated chronic lymphocytic leukemiaGabriel Bretones, Miguel G Álvarez, Javier R Arango, et al.
Journal of Medical Genetics|June 24, 2016
Novel <i>LMNA</i> mutations cause an aggressive atypical neonatal progeria without progerin accumulationClara Soria-Valles, Dido Carrero, Elisabeth Gabau, et al.
Disease Models & Mechanisms|April 19, 2018
Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistanceGorka Ruiz de Garibay, Francesca Mateo, Agostina Stradella, et al.
Nature Genetics|December 14, 2011
Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemiaVíctor Quesada, Laura Conde, Neus Villamor, et al.
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