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European Journal of Human Genetics : EJHG|April 26, 2002
Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22Astrid Golla, Annette Jansson, Juliane Ramser, et al.
European Journal of Human Genetics : EJHG|April 9, 2002
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin)Valérie Allamand, Pascale Guicheney
European Journal of Human Genetics : EJHG|April 9, 2002
Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryosHenrik Zetterberg, Björn Regland, Mona Palmér, et al.
European Journal of Human Genetics : EJHG|April 9, 2002
4th International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis. Various uses for DNA variationsAnthony J Brookes
European Journal of Human Genetics : EJHG|March 16, 2002
Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 dupliconsMiguel Angel Pujana, Marga Nadal, Miriam Guitart, et al.
European Journal of Human Genetics : EJHG|March 16, 2002
Characterisation of the human voltage-gated potassium channel gene, KCNA7, a candidate gene for inherited cardiac disorders, and its exclusion as cause of progressive familial heart block I (PFHBI)Soraya Bardien-Kruger, Heike Wulff, Zainu Arieff, et al.
European Journal of Human Genetics : EJHG|March 16, 2002
Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delayDarrell J Tomkins, Helen L McDonald, Sandra A Farrell, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation conditionMarlène Rio, Valérie Malan, Sarah Boissel, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosisLucia Micale, Maria Giuseppina Turturo, Carmela Fusco, et al.
European Journal of Human Genetics : EJHG|October 22, 2009
Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approachLucia Sobrin, Julian B Maller, Benjamin M Neale, et al.
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