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Human Mutation|September 12, 2006
Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomiaEl Chérif Ibrahim, Matthew M Hims, Noam Shomron, et al.
Human Mutation|May 10, 2005
Subtelomeric rearrangements in the mentally retarded: a comparison of detection methodsLiesbeth Rooms, Edwin Reyniers, R Frank Kooy
Human Mutation|May 10, 2005
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central EuropeRené Santer, Johannes Rischewski, Michaela von Weihe, et al.
Human Mutation|May 10, 2005
Application of genomewide SNP arrays for detection of simulated susceptibility lociBettina Kulle, Markus Schirmer, Mohammad R Toliat, et al.
Human Mutation|August 9, 2005
Scanning of genetic effects of alcohol metabolism gene (ADH1B and ADH1C) polymorphisms on the risk of alcoholismIhn-Geun Choi, Hyun-Gyun Son, Byung-Hwan Yang, et al.
Human Mutation|August 9, 2005
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6Sara Miksch, Amanda Lumsden, Ulf P Guenther, et al.
Human Mutation|January 16, 2007
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathiesHarald Bär, Bertrand Goudeau, Sarah Wälde, et al.
Human Mutation|January 16, 2007
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 updateBelinda Giardine, Sjozef van Baal, Polynikis Kaimakis, et al.
Human Mutation|January 16, 2007
A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patientsJuan C Rubio, Ines Garcia-Consuegra, Gisela Nogales-Gadea, et al.
Human Mutation|January 16, 2007
Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndromeYoshisumi Haruna, Atsushi Kobori, Takeru Makiyama, et al.
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