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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.Human Mutation|April 24, 2009
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter studyDominic J McMullan, Michael Bonin, Jayne Y Hehir-Kwa, et al.Human Mutation|July 24, 2009
Searching genetic risk factors for schizophrenia and bipolar disorder: learn from the past and back to the futureMaaike Alaerts, Jurgen Del-FaveroHuman Mutation|August 27, 2009
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomaliesSibel Ugur Iseri, Robert J Osborne, Martin Farrall, et al.Human Mutation|September 1, 2009
Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?Joanna L Elson, Helen Swalwell, Emma L Blakely, et al.Pageof 577