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Human Mutation|March 15, 2012
Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype informationTomasz Adamusiak, Helen Parkinson, Juha Muilu, et al.
Human Mutation|April 17, 2012
Differential effects of AKT1(p.E17K) expression on human mammary luminal epithelial and myoepithelial cellsBodour Salhia, Courtney Van Cott, Tony Tegeler, et al.
Human Mutation|April 18, 2012
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patientsMarie-Pierre Audrézet, Emilie Cornec-Le Gall, Jian-Min Chen, et al.
Human Mutation|March 25, 2011
Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genesDobril Ivanov, Stephen E Hamby, Peter D Stenson, et al.
Human Mutation|March 12, 2011
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) allelesFrancesca Bertola, Mirella Filocamo, Giorgio Casati, et al.
Human Mutation|March 12, 2011
A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP)Véronique Pons, Corinne Rolland, Michel Nauze, et al.
Human Mutation|June 18, 2011
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutationsPeter C van den Akker, Marcel F Jonkman, Trebor Rengaw, et al.
Human Mutation|July 26, 2011
Functional consequences and structural interpretation of mutations of human choline acetyltransferaseXin-Ming Shen, Thomas O Crawford, Joan Brengman, et al.
Human Mutation|November 3, 2011
Genome-wide identification of SNPs in microRNA genes and the SNP effects on microRNA target binding and biogenesisJing Gong, Yin Tong, Hong-Mei Zhang, et al.
Human Mutation|November 3, 2011
FZD6 is a novel gene for human neural tube defectsPatrizia De Marco, Elisa Merello, Andrea Rossi, et al.
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