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Human Molecular Genetics|January 8, 2010
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysisLaura K Conlin, Brian D Thiel, Carsten G Bonnemann, et al.
Scientific Reports|August 22, 2015
CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan SubpopulationsRana Dajani, Jin Li, Zhi Wei, et al.
Annals of the Rheumatic Diseases|September 5, 2020
Genomic risk scores for juvenile idiopathic arthritis and its subtypesRodrigo Cánovas, Joanna Cobb, Marta Brozynska, et al.
Journal of Proteomics|June 8, 2013
Proteomics screen to reveal molecular changes mediated by C722G missense mutation in CHRM2 geneDongyan Hou, Ying Chen, Jiamei Liu, et al.
Journal of Medical Genetics|August 11, 2017
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disabilityYasmin Tatour, Iker Sanchez-Navarro, Elana Chervinsky, et al.
The Journal of Investigative Dermatology|September 7, 2013
Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticumQiaoli Li, Jill L Brodsky, Laura K Conlin, et al.
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