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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.Human Mutation|February 13, 2010
The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradationStefanie Löffek, Stefan Wöll, Jörg Höhfeld, et al.Human Mutation|September 9, 2016
From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome SequencingSteve Laurie, Marcos Fernandez-Callejo, Santiago Marco-Sola, et al.Human Mutation|September 3, 2016
Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 ChannelTakashi Murayama, Nagomi Kurebayashi, Haruo Ogawa, et al.Human Mutation|May 26, 2017
Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defectChristine Edelbusch, Sandra Cindrić, Gerard W Dougherty, et al.Pageof 574