Showing results (21-30 of 9,781) with videos related to
Sort By:
Pageof 979
American Journal of Human Genetics|February 8, 2011
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosaStephan Züchner, Julia Dallman, Rong Wen, et al.American Journal of Human Genetics|February 1, 1990
Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22G A Rouleau, B R Seizinger, W Wertelecki, et al.American Journal of Human Genetics|November 25, 2010
Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissectionsSiddharth K Prakash, Scott A LeMaire, Dong-Chuan Guo, et al.American Journal of Human Genetics|October 1, 1990
Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase geneA Hata, M Emi, G Luc, et al.American Journal of Human Genetics|October 19, 2010
Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complexRami Kaufmann, Rachel Straussberg, Hanna Mandel, et al.American Journal of Human Genetics|December 21, 2010
GCTA: a tool for genome-wide complex trait analysisJian Yang, S Hong Lee, Michael E Goddard, et al.American Journal of Human Genetics|January 4, 2011
SMOC1 is essential for ocular and limb development in humans and miceIppei Okada, Haruka Hamanoue, Koji Terada, et al.American Journal of Human Genetics|March 1, 2011
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathyNadine Norton, Duanxiang Li, Mark J Rieder, et al.American Journal of Human Genetics|November 2, 2010
Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XIIMaya Feldshtein, Suliman Elkrinawi, Baruch Yerushalmi, et al.American Journal of Human Genetics|November 2, 2010
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23Georgy Bakalkin, Hiroyuki Watanabe, Justyna Jezierska, et al.Pageof 979