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Human Mutation|April 1, 2006
Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rateD M Warthen, E C Moore, B M Kamath, et al.Human Mutation|March 22, 2006
Interaction between IL1B gene promoter polymorphisms in determining susceptibility to Helicobacter pylori associated duodenal ulcerMeenakshi Chakravorty, Arunima Ghosh, Abhijit Choudhury, et al.Human Mutation|January 27, 2007
Extensive gene conversion at the PMS2 DNA mismatch repair locusBruce E Hayward, Michel De Vos, Elizabeth M A Valleley, et al.Human Mutation|January 24, 2006
Nonsynonymous SNPs: validation characteristics, derived allele frequency patterns, and suggestive evidence for natural selectionDavid Fredman, Sarah L Sawyer, Linda Strömqvist, et al.Human Mutation|January 24, 2006
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndromeWiktor Borozdin, Katharina Steinmann, Beate Albrecht, et al.Human Mutation|April 19, 2006
Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arraysJeffrey E Ming, Elizabeth Geiger, Alison C James, et al.Human Mutation|January 5, 2026
Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome DeletionsEleana Rraku, Tyler D Medina, Conny M A van Ravenswaaij-Arts, et al.Human Mutation|January 5, 2026
Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic YieldLia Bonamici, Lucia Artuso, Marco Marino, et al.Human Mutation|January 15, 1999
Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathiesE Nelis, N Haites, C Van BroeckhovenHuman Mutation|January 15, 1999
Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation updateR Rosipal, J Lamoril, H Puy, et al.Pageof 583