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Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|October 16, 2004
Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer ConsortiumJens Plaschke, Christoph Engel, Stefan Krüger, et al.
Scientific Reports|March 21, 2018
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophyJohannes Birtel, Tobias Eisenberger, Martin Gliem, et al.
Cancer Letters|December 13, 2005
N-acetyltransferase (NAT) 2 acetylator status and age of onset in patients with hereditary nonpolyposis colorectal cancer (HNPCC)Steffen Pistorius, Heike Görgens, Stefan Krüger, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|March 18, 2014
Nonsyndromic cleft lip with or without cleft palate in arab populations: genetic analysis of 15 risk loci in a novel case-control sample recruited in YemenKhalid Ahmed Aldhorae, Anne C Böhmer, Kerstin U Ludwig, et al.
International Journal of Oncology|December 6, 2005
The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCCSaara Ollila, Roslyn Fitzpatrick, Laura Sarantaus, et al.
European Journal of Human Genetics : EJHG|July 22, 2010
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletionsMaria C Bonaglia, Susan Marelli, Francesca Novara, et al.
Gastroenterology|November 15, 2006
Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated proteinSaara Ollila, Laura Sarantaus, Reetta Kariola, et al.
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