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Plos One|July 9, 2009
Pyrin Modulates the Intracellular Distribution of PSTPIP1Andrea L Waite, Philip Schaner, Neil Richards, et al.JIMD Reports|April 23, 2013
A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth SyndromeYuxin Fan, Jon Steller, Iris L Gonzalez, et al.Neuroscience Letters|November 25, 2010
Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutationJohn M Ringman, Karen H Gylys, Luis D Medina, et al.Neurology|August 3, 2014
TUBB4A de novo mutations cause isolated hypomyelinationAmy Pizzino, Tyler Mark Pierson, Yiran Guo, et al.Journal of the American College of Cardiology|December 10, 2003
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compactionMatteo Vatta, Bhagyalaxmi Mohapatra, Shinawe Jimenez, et al.JAMA|October 19, 2014
Clinical exome sequencing for genetic identification of rare Mendelian disordersHane Lee, Joshua L Deignan, Naghmeh Dorrani, et al.European Journal of Human Genetics : EJHG|May 7, 2015
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct faciesJianling Ji, Hane Lee, Bob Argiropoulos, et al.Pageof 3