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Human Mutation|May 30, 2009
A novel mutation in CD40 and its functional characterizationChun-Jian Qi, Lu Zheng, Hong-Bing Ma, et al.Human Mutation|May 30, 2009
High-resolution DNA melting analysis: advancements and limitationsCarl T WittwerHuman Mutation|June 4, 2009
Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2HKristian Borg, Rolf Stucka, Matthew Locke, et al.Human Mutation|May 28, 2010
Mutations in SOHLH1 gene associate with nonobstructive azoospermiaYoungsok Choi, Sanghyun Jeon, Mikyung Choi, et al.Human Mutation|May 28, 2010
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channelKatja Koeppen, Peggy Reuter, Thomas Ladewig, et al.Human Mutation|May 28, 2010
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma familiesSusana Igreja, Harvinder S Chahal, Peter King, et al.Human Mutation|May 28, 2010
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemiaRoeland Huijgen, Iris Kindt, Sigrid W Fouchier, et al.Human Mutation|October 6, 2009
Analysis of human CYP1A1 and CYP1A2 genes and their shared bidirectional promoter in eight world populationsLucia F Jorge-Nebert, Zhengwen Jiang, Ranajit Chakraborty, et al.Human Mutation|May 12, 2009
Predicting the pathogenicity of RPE65 mutationsA R Philp, M Jin, S Li, et al.Human Mutation|May 12, 2009
Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate lociClaude Bendavid, Lucie Rochard, Christèle Dubourg, et al.Pageof 583