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Journal of Intellectual Disability Research : JIDR|January 5, 2008
Feasibility and outcomes of multiplex ligation-dependent probe amplification on buccal smears as a screening method for microdeletions and duplications among 300 adults with an intellectual disability of unknown aetiologyD Peppink, D D Douma-Kloppenburg, E S P de Rooij-Askes, et al.Familial Cancer|October 24, 2003
Histopathological characteristics of BRCA1- and BRCA2-associated intraperitoneal cancer: a clinic-based studyJurgen M J Piek, Bas Torrenga, Brenda Hermsen, et al.Anemia|June 22, 2012
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencingNajim Ameziane, Daoud Sie, Stefan Dentro, et al.Pathology International|October 19, 2013
Multifocal and microscopic chromophobe renal cell carcinomatous lesions associated with 'capsulomas' without FCLN gene abnormalityKotaro Sugimoto, Akira Takasawa, Shingo Ichimiya, et al.Histopathology|June 26, 2003
Expression of differentiation and proliferation related proteins in epithelium of prophylactically removed ovaries from women with a hereditary female adnexal cancer predispositionJ M J Piek, R H M Verheijen, F H Menko, et al.Genetic Testing|April 1, 2008
CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screeningPhillis Lakeman, Johan J P Gille, Jeannette E Dankert-Roelse, et al.Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|April 10, 2007
Serum CA-125 in relation to adnexal dysplasia and cancer in women at hereditary high risk of ovarian cancerBrenda B J Hermsen, Silvia von Mensdorff-Pouilly, Johannes Berkhof, et al.Molecular Genetics & Genomic Medicine|July 19, 2017
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patientsDaniela V Pilonetto, Noemi F Pereira, Carmem M S Bonfim, et al.Clinical Genetics|March 27, 2009
Early onset of renal cancer in a family with Birt-Hogg-Dubé syndromeI Kluijt, D de Jong, H J Teertstra, et al.American Journal of Medical Genetics. Part A|January 18, 2006
Severe complications in a child with achondroplasia and two FGFR3 mutations on the same alleleP Rump, T G W Letteboer, J J P Gille, et al.Pageof 11