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European Journal of Human Genetics : EJHG|January 1, 1996
Tetrasomy 18p de novo: parental origin and different mechanisms of formationM Bugge, E Blennow, U Friedrich, et al.
European Journal of Human Genetics : EJHG|January 1, 1996
Isochromosome 18p results from maternal meiosis II nondisjunctionD Kotzot, G Bundscherer, F Bernasconi, et al.
European Journal of Human Genetics : EJHG|January 1, 1996
Seven novel additional small mutations and a new alternative splicing in the human dystrophin gene detected by heteroduplex analysis and restricted RT-PCR heteroduplex analysis of illegitimate transcriptsA M Barbieri, N Soriani, A Ferlini, et al.
European Journal of Human Genetics : EJHG|January 1, 1995
Direct detection of non-random X chromosome inactivation by use of a transcribed polymorphism in the XIST geneJ L Rupert, C J Brown, H F Willard
European Journal of Human Genetics : EJHG|May 15, 2008
Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotypeKana Hosoki, Tsutomu Ogata, Masayo Kagami, et al.
European Journal of Human Genetics : EJHG|April 10, 2008
Influence of the cystathionine beta-synthase 844ins68 and methylenetetrahydrofolate reductase 677C>T polymorphisms on folate and homocysteine concentrationsCarolyn M Summers, Andrea L Hammons, Laura E Mitchell, et al.
European Journal of Human Genetics : EJHG|April 10, 2008
Ischaemic stroke in hypertensive patients is associated with variations in the PDE4D genome regionHåkan Lövkvist, Jan Gustav Smith, Holger Luthman, et al.
European Journal of Human Genetics : EJHG|April 3, 2008
Interleukin 18 receptor 1 gene polymorphisms are associated with asthmaGuohua Zhu, Moira K B Whyte, Jorgen Vestbo, et al.
European Journal of Human Genetics : EJHG|April 3, 2008
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish originVilma-Lotta Lehtokari, Katarina Pelin, Kati Donner, et al.
European Journal of Human Genetics : EJHG|April 3, 2008
Catechol O-methyl transferase and dopamine D2 receptor gene polymorphisms: evidence of positive heterosis and gene-gene interaction on working memory functioningM Florencia Gosso, Eco J C de Geus, Tinca J C Polderman, et al.
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