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Journal of Medical Genetics|July 14, 2009
DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosisP Isohanni, T Linnankivi, J Buzkova, et al.Journal of Medical Genetics|February 28, 2012
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defectsMarjolein H Willemsen, Lisenka E L Vissers, Michèl A A P Willemsen, et al.Journal of Medical Genetics|February 28, 2012
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiencyLeonardo Salviati, Eva Trevisson, Maria Angeles Rodriguez Hernandez, et al.Journal of Medical Genetics|August 30, 2008
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticistC Lintas, A M PersicoJournal of Medical Genetics|August 30, 2008
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patientsC Zweier, H Sticht, E K Bijlsma, et al.Journal of Medical Genetics|September 3, 2008
Dynamic CpG methylation of the KCNQ1OT1 gene during maturation of human oocytesR Khoueiry, R Khoureiry, S Ibala-Rhomdane, et al.Journal of Medical Genetics|September 3, 2008
Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinomaA Russell-Swetek, A N West, J E Mintern, et al.Journal of Medical Genetics|May 1, 1991
Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre studyA Verloes, S Aymé, D Gambarelli, et al.Journal of Medical Genetics|May 1, 1991
Application of PCR amplification of DNA from paraffin embedded tissue sections to linkage analysis in familial retinoblastomaZ Onadim, J K CowellJournal of Medical Genetics|May 1, 1991
What do young people think about screening for cystic fibrosis?E Cobb, S Holloway, R Elton, et al.Pageof 649