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American Journal of Human Genetics|March 12, 2013
A CpG mutational hotspot in a ONECUT binding site accounts for the prevalent variant of hemophilia B LeydenAlister P W Funnell, Michael D Wilson, Benoit Ballester, et al.American Journal of Human Genetics|May 1, 2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier, Oana Caluseriu, Sarah Ng, et al.American Journal of Human Genetics|May 1, 2012
A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermiaHan Zhao, Jianfeng Xu, Haobo Zhang, et al.American Journal of Human Genetics|May 1, 2012
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disabilityMuzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, et al.American Journal of Human Genetics|February 12, 2013
Mutations in MED12 cause X-linked Ohdo syndromeAnneke T Vulto-van Silfhout, Bert B A de Vries, Bregje W M van Bon, et al.American Journal of Human Genetics|May 1, 1990
Strong linkage disequilibrium between the XY274 polymorphism and the pseudoautosomal boundaryN Ellis, J Kidd, P J Goodfellow, et al.American Journal of Human Genetics|May 1, 1990
A high frequency of length polymorphisms in repeated sequences adjacent to Alu sequencesG Zuliani, H H HobbsAmerican Journal of Human Genetics|May 1, 1990
Cystic fibrosis mutations in the Hutterite BrethrenK Klinger, G T Horn, P Stanislovitis, et al.American Journal of Human Genetics|June 1, 1990
Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouseC Foy, V Newton, D Wellesley, et al.American Journal of Human Genetics|June 1, 1990
Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locusJ C Myers, T A Jones, E R Pohjolainen, et al.Pageof 980