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Human Mutation|March 21, 2007
Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR)Philip A Chan, Sekhar Duraisamy, Peter J Miller, 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.Familial Cancer|August 22, 2009
Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patientsLise Lotte Christensen, Reetta Kariola, Mari K Korhonen, et al.European Journal of Human Genetics : EJHG|June 14, 2012
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndromeAnnette F Baas, Michael Gabbett, Milan Rimac, et al.Human Mutation|July 4, 2012
Functional characterization of MLH1 missense variants identified in Lynch syndrome patientsSofie Dabros Andersen, Sascha Emilie Liberti, Anne Lützen, et al.Human Mutation|September 16, 2016
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene VariantsRossella Tricarico, Mariann Kasela, Cristina Mareni, et al.Gastroenterology|August 9, 2005
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1Tiina E Raevaara, Mari K Korhonen, Hannes Lohi, et al.Cancer Research Communications|March 6, 2023
Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and SensitivityMinttu Kansikas, Laura Vähätalo, Jukka Kantelinen, et al.Pageof 4