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American Journal of Human Genetics|July 16, 2019
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental DisorderLot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, et al.American Journal of Human Genetics|June 1, 1988
The gene for the alpha i1 subunit of human guanine nucleotide binding protein maps near the cystic fibrosis locusD B Bloch, K D Bloch, M Iannuzzi, et al.American Journal of Human Genetics|January 17, 2017
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisMaxence S Macia, Jan Halbritter, Marion Delous, et al.American Journal of Human Genetics|January 17, 2017
Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related TraitsAlanna C Morrison, Zhuoyi Huang, Bing Yu, et al.American Journal of Human Genetics|February 9, 2006
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolismJorn Oliver Sass, Verena Mohr, Heike Olbrich, et al.American Journal of Human Genetics|February 9, 2006
A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterolIngrid K Kotowski, Alexander Pertsemlidis, Amy Luke, et al.American Journal of Human Genetics|February 9, 2006
Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genesXifeng Wu, Jian Gu, H Barton Grossman, et al.American Journal of Human Genetics|February 9, 2006
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos diseaseRegina C Betz, Laura Planko, Sibylle Eigelshoven, et al.American Journal of Human Genetics|May 6, 2008
A functional polymorphism in THBS2 that affects alternative splicing and MMP binding is associated with lumbar-disc herniationYuichiro Hirose, Kazuhiro Chiba, Tatsuki Karasugi, et al.American Journal of Human Genetics|March 5, 2017
2016 ASHG Awards and AddressesPageof 979