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European Journal of Human Genetics : EJHG|April 2, 2009
Hereditary haemorrhagic telangiectasia: a clinical and scientific reviewFatima S Govani, Claire L Shovlin
European Journal of Human Genetics : EJHG|February 19, 2009
4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformationDunja Niedrist, Iosif W Lurie, Albert Schinzel
European Journal of Human Genetics : EJHG|February 19, 2009
Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertensionHu Wang, Wen Li, Weili Zhang, et al.
European Journal of Human Genetics : EJHG|September 14, 2007
Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1Stefan Krüger, Miriam Kinzel, Constanze Walldorf, et al.
European Journal of Human Genetics : EJHG|May 21, 2010
Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movementsAnnabel Whibley, Jill Urquhart, Jonathan Dore, et al.
European Journal of Human Genetics : EJHG|September 10, 2009
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)Tod Fullston, Louise Brueton, Tracey Willis, et al.
European Journal of Human Genetics : EJHG|April 8, 2010
Replication of the LINGO1 gene association with essential tremor in a North American populationLorraine N Clark, Naeun Park, Sergey Kisselev, et al.
European Journal of Human Genetics : EJHG|April 8, 2010
A sequence variant on 17q21 is associated with age at onset and severity of asthmaEva Halapi, Daniel F Gudbjartsson, Gudrun M Jonsdottir, et al.
European Journal of Human Genetics : EJHG|May 13, 2010
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)Nina A Schlipf, Christian Beetz, Rebecca Schüle, et al.
European Journal of Human Genetics : EJHG|June 10, 2010
A qualitative study exploring genetic counsellors' experiences of counselling childrenFiona Ulph, James Leong, Cris Glazebrook, et al.
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