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Human Mutation|May 28, 2009
A gene-alteration profile of human lung cancer cell linesRaquel Blanco, Reika Iwakawa, Moying Tang, et al.Human Mutation|May 28, 2009
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidaseDoris Hofer, Karl Paul, Katrin Fantur, et al.Human Mutation|June 18, 2009
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndromeI Balikova, A-E Lehesjoki, T J L de Ravel, et al.Human Mutation|July 2, 2009
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathyPaul A van der Zwaag, Jan D H Jongbloed, Maarten P van den Berg, et al.Human Mutation|December 24, 2008
How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathyChristoph S Clemen, Dirk Fischer, Jens Reimann, et al.Human Mutation|October 15, 2008
Common variation in GRB-associated Binding Protein 2 (GAB2) and increased risk for Alzheimer dementiaKristel Sleegers, Karolien Bettens, Nathalie Brouwers, et al.Human Mutation|October 15, 2008
Molecular investigations to improve diagnostic accuracy in patients with ARC syndromeAndrew R Cullinane, Anna Straatman-Iwanowska, Jeong K Seo, et al.Human Mutation|December 6, 2008
Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencingDirk Goossens, Lotte N Moens, Eva Nelis, et al.Human Mutation|December 6, 2008
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementFrancesco Brancati, Miriam Iannicelli, Lorena Travaglini, et al.Human Mutation|February 5, 2009
No association between CALHM1 variation and risk of Alzheimer diseaseRyan L Minster, F Yesim Demirci, Steven T DeKosky, et al.Pageof 575