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American Journal of Human Genetics|January 10, 2012
ABCB6 mutations cause ocular colobomaLejin Wang, Lejing Wang, Fei He, et al.American Journal of Human Genetics|March 27, 2012
Linkage-disequilibrium-based binning affects the interpretation of GWASsAndrea Christoforou, Michael Dondrup, Morten Mattingsdal, et al.American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.American Journal of Human Genetics|December 14, 2011
Shared and unique components of human population structure and genome-wide signals of positive selection in South AsiaMait Metspalu, Irene Gallego Romero, Bayazit Yunusbayev, et al.American Journal of Human Genetics|December 14, 2011
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic typeByung-Joo Min, Namshin Kim, Taesu Chung, et al.American Journal of Human Genetics|December 14, 2011
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxityEric D Boyden, A Belinda Campos-Xavier, Sebastian Kalamajski, et al.American Journal of Human Genetics|December 20, 2011
Mutations in EZH2 cause Weaver syndromeWilliam T Gibson, Rebecca L Hood, Shing Hei Zhan, et al.American Journal of Human Genetics|April 17, 2012
SHANK1 Deletions in Males with Autism Spectrum DisorderDaisuke Sato, Anath C Lionel, Claire S Leblond, et al.American Journal of Human Genetics|April 10, 2012
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafishP V Asharani, Katharina Keupp, Oliver Semler, et al.American Journal of Human Genetics|January 31, 2012
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathyPia Ostergaard, Michael A Simpson, Antonella Mendola, et al.Pageof 979