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European Journal of Human Genetics : EJHG|May 30, 2001
Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communitiesM H Lee, D Gordon, J Ott, et al.
European Journal of Human Genetics : EJHG|May 30, 2001
Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe IslandsR Santer, M Kinner, U Steuerwald, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
Genome-wide search in Finnish families with inflammatory bowel disease provides evidence for novel susceptibility lociPaulina Paavola-Sakki, Vesa Ollikainen, Tiina Heliö, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprintedMonika Grabowski, Alexander Zimprich, Bettina Lorenz-Depiereux, et al.
European Journal of Human Genetics : EJHG|May 30, 2003
Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutationsAna Osorio, Miguel de la Hoya, Raquel Rodríguez-López, et al.
European Journal of Human Genetics : EJHG|May 30, 2003
Apolipoprotein B 3'-VNTR polymorphism in Eastern European populationsDmitry A Verbenko, T V Pogoda, V A Spitsyn, et al.
European Journal of Human Genetics : EJHG|May 30, 2003
CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literatureCéline Dupont, Eva Pipiras, Sandra Chantot-Bastaraud, et al.
European Journal of Human Genetics : EJHG|May 30, 2003
Mutations in PAX1 may be associated with Klippel-Feil syndromeJ M McGaughran, A Oates, D Donnai, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerationsIvan Conte, Marta Lestingi, Anneke den Hollander, et al.
European Journal of Human Genetics : EJHG|April 4, 2003
Italian family with two independent mutations: 3358T/A in BRCA1 and 8756delA in BRCA2 genesLaura Cortesi, Daniela Turchetti, Chiara Bertoni, et al.
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