Showing results (1951-1960 of 5,734) with videos related to
Sort By:
Pageof 574
Human Mutation|December 6, 2008
Functional characterization of three CYP21A2 sequence variants (p.A265V, p.W302S, p.D322G) employing a yeast co-expression systemCaroline Bleicken, Lourdes Loidi, Vivek Dhir, et al.Human Mutation|December 11, 2008
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathyBaijayanta Maiti, Sandrine Arbogast, Valérie Allamand, et al.Human Mutation|February 26, 2009
Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutationsEva Pros, Juana Fernández-Rodríguez, Belén Canet, et al.Human Mutation|March 24, 2009
The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in IrelandJohn M Darlow, Niamh H N Molloy, Andrew J Green, et al.Human Mutation|March 24, 2009
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiencySophie Monnot, Valérie Serre, Bernadette Chadefaux-Vekemans, et al.Human Mutation|March 24, 2009
Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndromeSeiko Ohno, Futoshi Toyoda, Dimitar P Zankov, et al.Human Mutation|March 25, 2009
Copy number variation at the FCGR locus includes FCGR3A, FCGR2C and FCGR3B but not FCGR2A and FCGR2BWillemijn B Breunis, Edwin van Mirre, Judy Geissler, et al.Human Mutation|March 25, 2009
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmiaNicolas Chassaing, Christelle Golzio, Sylvie Odent, et al.Human Mutation|May 14, 2009
Molecular characterization of the new defective P(brescia) alpha1-antitrypsin alleleDaniela Medicina, Nadia Montani, Anna M Fra, et al.Human Mutation|June 30, 2009
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1)Nigel G Laing, Danielle E Dye, Carina Wallgren-Pettersson, et al.Pageof 574