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Human Molecular Genetics|August 27, 2010
Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung diseaseLauren C Walters, V Ashley Cantrell, Kevin P Weller, et al.Human Molecular Genetics|September 3, 2010
A point mutation in the dynein heavy chain gene leads to striatal atrophy and compromises neurite outgrowth of striatal neuronsKerstin E Braunstein, Judith Eschbach, Krisztina Ròna-Vörös, et al.Human Molecular Genetics|September 1, 2010
Loss-of-function variants in the genomes of healthy humansDaniel G MacArthur, Chris Tyler-SmithHuman Molecular Genetics|July 17, 2010
Reduced NMDAR1 expression in the Sp4 hypomorphic mouse may contribute to endophenotypes of human psychiatric disordersXianjin Zhou, Zhiguo Nie, Amanda Roberts, et al.Human Molecular Genetics|July 17, 2010
TRAF6 promotes atypical ubiquitination of mutant DJ-1 and alpha-synuclein and is localized to Lewy bodies in sporadic Parkinson's disease brainsSilvia Zucchelli, Marta Codrich, Federica Marcuzzi, et al.Human Molecular Genetics|July 7, 2010
Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathwayGuoling Tian, Xavier H Jaglin, David A Keays, et al.Human Molecular Genetics|July 7, 2010
Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the GolgiYvonne L Clarkson, Trudi Gillespie, Emma M Perkins, et al.Human Molecular Genetics|October 22, 2010
Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type BBing Wang, Tanvi Sinha, Kai Jiao, et al.Human Molecular Genetics|November 16, 2010
Drosophila orthologue of WWOX, the chromosomal fragile site FRA16D tumour suppressor gene, functions in aerobic metabolism and regulates reactive oxygen speciesLouise V O'Keefe, Alex Colella, Sonia Dayan, et al.Human Molecular Genetics|November 17, 2010
Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxiaJuliette J Kahle, Natali Gulbahce, Chad A Shaw, et al.Pageof 1,195