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American Journal of Human Genetics|December 27, 2011
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locusKaren Mitchell, James O'Sullivan, Caterina Missero, et al.American Journal of Human Genetics|January 24, 2012
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndromeDiana C Blaydon, Sarah L Etheridge, Janet M Risk, et al.American Journal of Human Genetics|March 20, 2012
Mutations in ROGDI Cause Kohlschütter-Tönz SyndromeAnna Schossig, Nicole I Wolf, Christine Fischer, et al.American Journal of Human Genetics|March 6, 2012
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene regionJong-Min Lee, Tammy Gillis, Jayalakshmi Srinidhi Mysore, et al.American Journal of Human Genetics|February 28, 2012
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEPKrishna R Veeramah, Janelle E O'Brien, Miriam H Meisler, et al.American Journal of Human Genetics|January 6, 2015
CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoproteinAnne Slavotinek, Julie Kaylor, Heather Pierce, et al.American Journal of Human Genetics|January 6, 2015
Uncovering the genetic history of the present-day Greenlandic populationIda Moltke, Matteo Fumagalli, Thorfinn S Korneliussen, et al.American Journal of Human Genetics|January 6, 2015
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signalingMarkus Schueler, Daniela A Braun, Gayathri Chandrasekar, et al.American Journal of Human Genetics|December 7, 2014
Genetic association analysis under complex survey sampling: the Hispanic Community Health Study/Study of LatinosDan-Yu Lin, Ran Tao, William D Kalsbeek, et al.American Journal of Human Genetics|December 7, 2014
MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instabilityMichelle A Wood-Trageser, Fatih Gurbuz, Svetlana A Yatsenko, et al.Pageof 980