Showing results (2091-2100 of 5,825) with videos related to
Sort By:
Pageof 583
Human Mutation|September 20, 2007
Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the geneManuel C Lemos, Rajesh V ThakkerHuman Mutation|September 15, 2007
Functional analysis of promoter variants in the microsomal triglyceride transfer protein (MTTP) geneDiana Rubin, Alexandra Schneider-Muntau, Maja Klapper, et al.Human Mutation|April 17, 2007
Progranulin null mutations in both sporadic and familial frontotemporal dementiaIsabelle Le Ber, Julie van der Zee, Didier Hannequin, et al.Human Mutation|April 18, 2007
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophyPetra Liskova, Stephen J Tuft, Rhian Gwilliam, et al.Human Mutation|April 13, 2007
Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking-associated signatureDongqing Gu, William A Scaringe, Kai Li, et al.Human Mutation|April 14, 2007
Functional profiling of uncommon VCAM1 promoter polymorphisms prevalent in African American populationsGila Idelman, James G Taylor, Ron Tongbai, et al.Human Mutation|April 4, 2007
Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein traffickingChristina Zeitz, Ursula Forster, John Neidhardt, et al.Human Mutation|March 31, 2007
Effective detection of corrected dystrophin loci in mdx mouse myogenic precursorsMarian Todaro, Anita Quigley, Magdalena Kita, et al.Human Mutation|October 28, 2008
Prediction and assessment of splicing alterations: implications for clinical testingAmanda B Spurdle, Fergus J Couch, Frans B L Hogervorst, et al.Human Mutation|October 28, 2008
Assessment of functional effects of unclassified genetic variantsFergus J Couch, Lene Juel Rasmussen, Robert Hofstra, et al.Pageof 583