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Journal of Medical Genetics|December 5, 2006
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease riskS E Humphries, R A Whittall, C S Hubbart, et al.Journal of Medical Genetics|May 3, 2005
Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathyT Rossenbacker, E Schollen, C Kuipéri, et al.Journal of Medical Genetics|May 3, 2005
A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qterT Tukel, A Uzumcu, A Gezer, et al.Journal of Medical Genetics|May 10, 2005
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of diseaseS A Abdalla, M LetarteJournal of Medical Genetics|May 17, 2005
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndromeJ van Reeuwijk, M Janssen, C van den Elzen, et al.Journal of Medical Genetics|May 17, 2005
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutationsN Chassaing, L Martin, P Calvas, et al.Journal of Medical Genetics|June 3, 2005
Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcomeG Holmgren, U Hellman, H-E Lundgren, et al.Journal of Medical Genetics|July 22, 2005
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardationL Basel-Vanagaite, R Attia, M Yahav, et al.Journal of Medical Genetics|July 15, 2005
Type 1 diabetes and the OAS gene cluster: association with splicing polymorphism or haplotype?M-C Tessier, H-Q Qu, R Fréchette, et al.Journal of Medical Genetics|July 15, 2005
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2K W Kjaer, H Eiberg, L Hansen, et al.Pageof 649