Showing results (1761-1770 of 9,792) with videos related to
Sort By:
Pageof 980
American Journal of Human Genetics|April 9, 2013
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disabilityLars Hansen, Hasan Tawamie, Yoshiko Murakami, et al.American Journal of Human Genetics|April 9, 2013
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndromePeter M Krawitz, Yoshiko Murakami, Angelika Rieß, et al.American Journal of Human Genetics|July 1, 1990
Cloning and chromosomal localization of the human cytoskeletal alpha-actinin gene reveals linkage to the beta-spectrin geneH Youssoufian, M McAfee, D J KwiatkowskiAmerican Journal of Human Genetics|July 1, 1990
Mitochondrial DNA polymorphism reveals hidden heterogeneity within some Asian populationsR ChakrabortyAmerican Journal of Human Genetics|May 7, 2013
MASTOR: mixed-model association mapping of quantitative traits in samples with related individualsJohanna Jakobsdottir, Mary Sara McPeekAmerican Journal of Human Genetics|May 7, 2013
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticityRyan J Taft, Adeline Vanderver, Richard J Leventer, et al.American Journal of Human Genetics|May 7, 2013
Mutations in SCO2 are associated with autosomal-dominant high-grade myopiaKhanh-Nhat Tran-Viet, Caldwell Powell, Veluchamy A Barathi, et al.American Journal of Human Genetics|April 2, 2013
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancersJuliet D French, Maya Ghoussaini, Stacey L Edwards, et al.American Journal of Human Genetics|April 2, 2013
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered proteaseEmma M Jenkinson, Atteeq U Rehman, Tom Walsh, et al.American Journal of Human Genetics|April 2, 2013
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndromeSarah B Pierce, Ksenija Gersak, Rachel Michaelson-Cohen, et al.Pageof 980