Showing results (4061-4070 of 5,826) with videos related to

Sort By:
Pageof 583
Human Mutation|September 30, 2014
Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years onEmilie Cornec-Le Gall, Marie-Pierre Audrézet, Yannick Le Meur, et al.
Human Mutation|August 29, 2015
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1Frauke Coppieters, Anne Laure Todeschini, Takuro Fujimaki, et al.
Human Mutation|September 16, 2014
Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutationsHao Hu, Thomas F Wienker, Luciana Musante, et al.
Human Mutation|September 17, 2014
Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and DrosophilaAnne Gregor, Jamie M Kramer, Monique van der Voet, et al.
Human Mutation|September 19, 2014
Disruption of the SEMA3D gene in a patient with congenital heart defectsMarta Sanchez-Castro, Olivier Pichon, Annaig Briand, et al.
Human Mutation|September 19, 2014
New target genes in endometrial tumors show a role for the estrogen-receptor pathway in microsatellite-unstable cancersAna M Ferreira, Iina Tuominen, Sónia Sousa, et al.
Human Mutation|August 14, 2014
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregatesDaniela Rossi, Bianca Vezzani, Lucia Galli, et al.
Human Mutation|July 22, 2014
Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylationSalah Azzi, Annick Blaise, Virginie Steunou, et al.
Human Mutation|November 5, 2013
Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombinationKathrin Bengesser, Julia Vogt, Tanja Mussotter, et al.
Human Mutation|April 13, 2016
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification SystemManou Sommen, Isabelle Schrauwen, Geert Vandeweyer, et al.
Pageof 583