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European Journal of Human Genetics : EJHG|October 31, 2002
Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literatureLaurence Faivre, Philippe Gosset, Valérie Cormier-Daire, et al.
European Journal of Human Genetics : EJHG|October 31, 2002
Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous MalformationsFlorence Cavé-Riant, Christian Denier, Pierre Labauge, et al.
European Journal of Human Genetics : EJHG|October 31, 2002
Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathyZhyldyz T Kabaeva, Andreas Perrot, Bastian Wolter, et al.
European Journal of Human Genetics : EJHG|January 17, 2003
Linkage of aggressive prostate cancer to chromosome 7q31-33 in German prostate cancer familiesThomas Paiss, Sonja Wörner, Florian Kurtz, et al.
European Journal of Human Genetics : EJHG|January 17, 2003
Familial Mediterranean fever is no longer a rare disease in ItalyMicaela La Regina, Gabriella Nucera, Marialuisa Diaco, et al.
European Journal of Human Genetics : EJHG|January 17, 2003
Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairmentBritt-Marie Anderlid, Jacqueline Schoumans, Asa Hallqvist, et al.
European Journal of Human Genetics : EJHG|January 17, 2003
Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patientsY Cetin Kocaefe, Sevim Erdem, Meral Ozgüç, et al.
European Journal of Human Genetics : EJHG|July 21, 2001
Best practice guidelines for molecular analysis in spinal muscular atrophyH Scheffer, J M Cobben, G Matthijs, et al.
European Journal of Human Genetics : EJHG|July 21, 2001
Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testingL Lodder, P G Frets, R W Trijsburg, et al.
European Journal of Human Genetics : EJHG|July 21, 2001
Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assayC Sismani, J A Armour, J Flint, et al.
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