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European Journal of Human Genetics : EJHG|July 4, 2008
What process attributes of clinical genetics services could maximise patient benefits?Marion McAllister, Katherine Payne, Rhona Macleod, et al.
European Journal of Human Genetics : EJHG|July 17, 2008
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430PheKatrin Koehler, Knut Brockmann, Manuela Krumbholz, et al.
European Journal of Human Genetics : EJHG|July 17, 2008
Influence of MUC1 genetic variation on prostate cancer risk and survivalRona J Strawbridge, Monica Nister, Kerstin Brismar, et al.
European Journal of Human Genetics : EJHG|June 8, 2006
Nonsense-mediated mRNA decay modulates clinical outcome of genetic diseaseMehrdad Khajavi, Ken Inoue, James R Lupski
European Journal of Human Genetics : EJHG|June 1, 2006
Chromosome 5 and Parkinson diseaseTatiana Foroud, Nathan Pankratz, Maria Martinez, et al.
European Journal of Human Genetics : EJHG|May 3, 2007
First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraineKaate R J Vanmolkot, Anine H Stam, Ashok Raman, et al.
European Journal of Human Genetics : EJHG|April 5, 2007
Mutation analysis of candidate genes within the 2q33.3 linkage area for familial early-onset generalised osteoarthritisJosine L Min, Ingrid Meulenbelt, Margreet Kloppenburg, et al.
European Journal of Human Genetics : EJHG|April 19, 2007
Clinical outcome of preimplantation genetic diagnosis for cystic fibrosis: the Brussels' experienceKathelijn Keymolen, Veerle Goossens, Martine De Rycke, et al.
European Journal of Human Genetics : EJHG|June 1, 2006
Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2Anne M Slavotinek, Ali Moshrefi, Randy Davis, et al.
European Journal of Human Genetics : EJHG|May 26, 2006
A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locusSandra Martins, Francesc Calafell, Virginia C N Wong, et al.
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