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Lung Cancer (Amsterdam, Netherlands)|August 21, 2021
Primary lung carcinoma in children and adolescents - Clinical characteristics and outcome of 12 cases from the German registry for rare paediatric tumours (STEP)Sarah Voggel, Michael Abele, Christian Seitz, et al.Human Mutation|September 15, 2004
Ten novel MSH2 and MLH1 germline mutations in families with HNPCCStefan Krüger, Andrea Bier, Jens Plaschke, 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.Cancer Letters|July 13, 2006
Absence of association between cyclin D1 (CCND1) G870A polymorphism and age of onset in hereditary nonpolyposis colorectal cancerStefan Krüger, Christoph Engel, Andrea Bier, et al.Neurology. Genetics|December 20, 2024
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard DiagnosticsMartin Wendlandt, Hannes Erdmann, Simone Rost, et al.Cancer Letters|January 17, 2007
The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1Stefan Krüger, Christoph Engel, Andrea Bier, et al.Journal of Medical Genetics|February 5, 2016
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestaltNataliya Di Donato, Teresa Neuhann, Anne-Karin Kahlert, et al.European Journal of Medical Genetics|August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndromeChristiane Zweier, Christian T Thiel, Andreas Dufke, et al.Pageof 2