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Human Mutation|February 5, 2009
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytesAlberto Zullo, Werner Klingler, Claudia De Sarno, et al.Human Mutation|April 17, 2009
Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 proteinKatrin Voss, Sonja Stahl, Benjamin M Hogan, et al.Human Mutation|April 17, 2009
Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profilingSteven F Dobrowolski, Alexandra T M Hendrickx, Bianca J C van den Bosch, et al.Human Mutation|April 17, 2009
Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS)Anna L Mitchell, Ulrike Schwarze, Jessica F Jennings, et al.Human Mutation|March 26, 2009
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier geneMarianne Abifadel, Jean-Pierre Rabès, Sélim Jambart, et al.Human Mutation|August 25, 2009
RFT1 deficiency in three novel CDG patientsWendy Vleugels, Micha A Haeuptle, Bobby G Ng, et al.Human Mutation|August 25, 2009
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndromeJinglan Liu, Rachel Feldman, Zhe Zhang, et al.Human Mutation|October 21, 2009
Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human diseaseLinda Mannini, Jinglan Liu, Ian D Krantz, et al.Human Mutation|October 21, 2009
Deep sequencing to reveal new variants in pooled DNA samplesAstrid A Out, Ivonne J H M van Minderhout, Jelle J Goeman, et al.Human Mutation|October 23, 2009
Clinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effectEng-King Tan, F Shaffra Refai, Mobin Siddique, et al.Pageof 583