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Human Mutation|May 20, 2003
A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7Mathew W Moore, Lisa G Dietz, Budi Tirtorahardjo, et al.Human Mutation|June 20, 2003
Determination of SMN1 and SMN2 copy number using TaqMan technologyDirk Anhuf, Thomas Eggermann, Sabine Rudnik-Schöneborn, et al.Human Mutation|June 20, 2003
A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1M C Southey, A Tesoriero, M A Young, et al.Human Mutation|June 20, 2003
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and IrelandVirginie Scotet, David E Barton, James B G Watson, et al.Human Mutation|May 23, 2012
ApiNATOMY: a novel toolkit for visualizing multiscale anatomy schematics with phenotype-related informationBernard de Bono, Pierre Grenon, Stephen John SammutHuman Mutation|May 25, 2012
PRRT2 mutations are the major cause of benign familial infantile seizuresJulian Schubert, Roberta Paravidino, Felicitas Becker, et al.Human Mutation|May 22, 2012
Identification of novel rare mutations of DACT1 in human neural tube defectsYan Shi, Yi Ding, Yun-Ping Lei, et al.Human Mutation|March 19, 2013
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnosticsDimitre R Simeonov, Xinjing Wang, Chen Wang, et al.Human Mutation|March 19, 2013
Deficiency of the cyclin-dependent kinase inhibitor, CDKN1B, results in overgrowth and neurodevelopmental delayWilliam Grey, Louise Izatt, Wafa Sahraoui, et al.Human Mutation|March 20, 2013
Prioritization of retinal disease genes: an integrative approachAlex H Wagner, Kyle R Taylor, Adam P DeLuca, et al.Pageof 574