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Human Mutation|June 18, 2010
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrumVerena Matejas, Bernward Hinkes, Faisal Alkandari, et al.Human Mutation|August 21, 2010
Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletionsAngelika C Roehl, Julia Vogt, Tanja Mussotter, et al.Human Mutation|August 21, 2010
NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)Stella Marie Reamon-Buettner, Juergen BorlakHuman Mutation|October 2, 2010
COLD PCR HRM: a highly sensitive detection method for IDH1 mutationsBlandine Boisselier, Yannick Marie, Marianne Labussière, et al.Human Mutation|September 18, 2010
Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophyS Amer Riazuddin, Eranga N Vithana, Li-Fong Seet, et al.Human Mutation|September 18, 2010
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletionGabriella Esposito, Maria Rosaria Imperato, Luigi Ieno, et al.Human Mutation|September 18, 2010
Generation and analysis of the thiazide-sensitive Na+ -Cl- cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndromeSung-Sen Yang, Yi-Fen Lo, I-Shing Yu, et al.Human Mutation|September 18, 2010
Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancerMasanori Goto, Kazuya Shinmura, Yusaku Nakabeppu, et al.Human Mutation|November 20, 2010
Legius syndrome in fourteen familiesEllen Denayer, Magdalena Chmara, Hilde Brems, et al.Human Mutation|October 21, 2010
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database updateIlenia Boria, Emanuela Garelli, Hanna T Gazda, et al.Pageof 583