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European Journal of Human Genetics : EJHG|September 14, 1999
Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1R Dufourcq-Lagelouse, N Lambert, M Duval, et al.
European Journal of Human Genetics : EJHG|September 14, 1999
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosaM G Miano, F Testa, M Strazzullo, et al.
European Journal of Human Genetics : EJHG|September 14, 1999
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counsellingM G Ausems, J Verbiest, M P Hermans, et al.
European Journal of Human Genetics : EJHG|September 14, 1999
Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testingZ Miedzybrodzka, A T Hattersley, S Ellard, et al.
European Journal of Human Genetics : EJHG|November 26, 1999
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancyO Bartsch, A Wagner, G K Hinkel, et al.
European Journal of Human Genetics : EJHG|November 26, 1999
Common polymorphism in a highly variable region upstream of the human lactase gene affects DNA-protein interactionsE J Hollox, M Poulter, Y Wang, et al.
European Journal of Human Genetics : EJHG|November 26, 1999
Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sampleC M van Duijn, M Cruts, J Theuns, et al.
European Journal of Human Genetics : EJHG|November 26, 1999
Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneityS Martin, A J Richards, J R Yates, et al.
European Journal of Human Genetics : EJHG|November 26, 1999
Associations of IGF2 ApaI RFLP and INS VNTR class I allele size with obesityS D O'Dell, S R Bujac, G J Miller, et al.
European Journal of Human Genetics : EJHG|November 26, 1999
BRCA1 and BRCA2 founder mutations in patients with bilateral breast cancerR Gershoni-Baruch, E Dagan, G Fried, et al.
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