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American Journal of Human Genetics|January 15, 2013
ALDH1A3 mutations cause recessive anophthalmia and microphthalmiaLucas Fares-Taie, Sylvie Gerber, Nicolas Chassaing, et al.
American Journal of Human Genetics|January 22, 2013
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegiaElodie Martin, Rebecca Schüle, Katrien Smets, et al.
American Journal of Human Genetics|December 19, 2012
Refinement in localization and identification of gene regions associated with Crohn diseaseHeather Elding, Winston Lau, Dallas M Swallow, et al.
American Journal of Human Genetics|December 25, 2012
Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locusMichael Mueller, Paula Barros, Abigail S Witherden, et al.
American Journal of Human Genetics|December 25, 2012
Rare, low-frequency, and common variants in the protein-coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritisDorothée Diogo, Fina Kurreeman, Eli A Stahl, et al.
American Journal of Human Genetics|January 1, 2013
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasiaCéline Huber, Eissa Ali Faqeih, Deborah Bartholdi, et al.
American Journal of Human Genetics|March 27, 2012
Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weightMiho Ishida, David Monk, Andrew J Duncan, et al.
American Journal of Human Genetics|March 27, 2012
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndromeBobby G Ng, Karl Hackmann, Melanie A Jones, et al.
American Journal of Human Genetics|February 5, 2013
Somatic uniparental isodisomy explains multifocality of glomuvenous malformationsMustapha Amyere, Virginie Aerts, Pascal Brouillard, et al.
American Journal of Human Genetics|March 12, 2013
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVsXiaoli Chen, Yiping Shen, Feng Zhang, et al.
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