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Human Mutation|January 23, 2014
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patientsAngels García-Cazorla, Alfonso Oyarzabal, Joana Fort, et al.Human Mutation|May 16, 2014
Mutation databases for inherited renal disease: are they complete, accurate, clinically relevant, and freely available?Judy Savige, Hayat Dagher, Sue PoveyHuman Mutation|January 29, 2014
Prediction of the repeat domain structures and impact of parkinsonism-associated variations on structure and function of all functional domains of leucine-rich repeat kinase 2 (LRRK2)Ryan D Mills, Terrence D Mulhern, Fei Liu, et al.Human Mutation|May 16, 2014
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathiesDaria Diodato, Laura Melchionda, Tobias B Haack, et al.Human Mutation|October 4, 2012
The facial evolution: looking backward and moving forwardGareth Baynam, Mark Walters, Peter Claes, et al.Human Mutation|January 1, 1997
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis ConsortiumX Estivill, C Bancells, C RamosHuman Mutation|January 1, 1997
Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French populationJ P Rabès, M Varret, B Saint-Jore, et al.Human Mutation|January 1, 1997
A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestryL Foubert, T Bruin, J L De Gennes, et al.Human Mutation|January 1, 1997
E280A PS-1 mutation causes Alzheimer's disease but age of onset is not modified by ApoE allelesC L Lendon, A Martinez, I M Behrens, et al.Human Mutation|January 1, 1997
Novel point mutations in the dystrophin geneR Sitnik, S Campiotto, M Vainzof, et al.Pageof 583