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Human Mutation|February 22, 2007
Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruptionK Wimmer, X Roca, H Beiglböck, et al.Human Mutation|February 24, 2007
RILM: a web-based resource to aid comparative and functional analysis of the insulin and IGF-1 receptor familyAcely Garza-Garcia, Dhaval S Patel, David Gems, et al.Human Mutation|January 16, 2007
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutationsGuntram Borck, Mohamed Zarhrate, Jean-Paul Bonnefont, et al.Human Mutation|January 16, 2007
Low proportion of whole exon deletions causing phenylketonuria in Denmark and GermanyLisbeth Birk Møller, Anders O H Nygren, Patrick Scott, et al.Human Mutation|April 20, 2007
Determination of haplotypes from single DNA molecules: a method for single-molecule barcodingMing Xiao, Matthew P Gordon, Angie Phong, et al.Human Mutation|April 17, 2007
Double de novo mutations of ELA2 in cyclic and severe congenital neutropeniaStephen J Salipante, Kathleen F Benson, Joanna Luty, et al.Human Mutation|April 4, 2007
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patientsDavid Baux, Lise Larrieu, Catherine Blanchet, et al.Human Mutation|April 4, 2007
Identification and characterization of a novel RPGR isoform in human retinaJohn Neidhardt, Esther Glaus, Daniel Barthelmes, et al.Human Mutation|May 18, 2006
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfectaKwang-Soo Lee, Hae-Ryong Song, Tae-Joon Cho, et al.Human Mutation|August 28, 2007
Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndromeAnne De Leener, Gianluigi Caltabiano, Sanly Erkan, et al.Pageof 583