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Journal of Medical Genetics|May 4, 2007
L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine modelJacques Penderis, Jacqui Calvin, Carley Abramson, et al.
Journal of Medical Genetics|May 8, 2007
Unexplained autism is frequently associated with low-level mosaic aneuploidyY B Yurov, S G Vorsanova, I Y Iourov, et al.
Journal of Medical Genetics|January 9, 2007
Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1Douglas R Stewart, Christopher L Corless, Brian P Rubin, et al.
Journal of Medical Genetics|January 9, 2007
Associations of catalase gene polymorphisms with bone mineral density and bone turnover markers in postmenopausal womenBermseok Oh, Shin-Yoon Kim, Duk Jae Kim, et al.
Journal of Medical Genetics|January 9, 2007
Is alpha-T catenin (VR22) an Alzheimer's disease risk gene?Lars Bertram, Kristina Mullin, Michele Parkinson, et al.
Journal of Medical Genetics|January 16, 2007
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophyJulie Desir, Graciela Moya, Orit Reish, et al.
Journal of Medical Genetics|January 16, 2007
The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosusAnna Hellquist, Marco Zucchelli, Katja Kivinen, et al.
Journal of Medical Genetics|March 16, 2007
Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational studyOliver W J Quarrell, Alan S Rigby, L Barron, et al.
Journal of Medical Genetics|May 29, 2007
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and managementWen-Hann Tan, Hagit N Baris, Patricia E Burrows, et al.
Journal of Medical Genetics|August 15, 2006
Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continentsAlisa M Goldstein, May Chan, Mark Harland, et al.
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