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Human Mutation|April 15, 2008
A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathySiv Fokstuen, Robert Lyle, Analia Munoz, et al.Genes|August 27, 2021
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing LossRoxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, et al.Genome Research|December 15, 2010
Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblastsChristelle Borel, Samuel Deutsch, Audrey Letourneau, et al.Plos One|August 29, 2015
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic TwinsM Reza Sailani, Federico A Santoni, Audrey Letourneau, et al.Human Mutation|January 25, 2021
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patientsSacha Laurent, Corinne Gehrig, Thierry Nouspikel, et al.American Journal of Medical Genetics. Part A|May 13, 2006
Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the regionRobert Lyle, Uppala Radhakrishna, Jean-Louis Blouin, et al.Proceedings of the National Academy of Sciences of the United States of America|July 27, 2002
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesiaLucia Bartoloni, Jean-Louis Blouin, Yanzhen Pan, et al.Nature Genetics|December 27, 2011
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanomaSergey I Nikolaev, Donata Rimoldi, Christian Iseli, et al.Plos One|November 25, 2014
Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genesMichel Guipponi, Federico A Santoni, Vincent Setola, et al.Elife|June 12, 2013
Passive and active DNA methylation and the interplay with genetic variation in gene regulationMaria Gutierrez-Arcelus, Tuuli Lappalainen, Stephen B Montgomery, et al.Pageof 3