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Nature Genetics|April 20, 2010
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility geneAlfons Meindl, Heide Hellebrand, Constanze Wiek, et al.Human Molecular Genetics|October 18, 2015
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiencyTimo Volk, Ulrich Pannicke, Ismail Reisli, et al.Nature Communications|March 8, 2018
Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1Gonzalo Hernández, María José Ramírez, Jordi Minguillón, et al.Molecular Cell|March 30, 2010
A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stabilityZhijiang Yan, Mathieu Delannoy, Chen Ling, et al.Frontiers in Immunology|October 10, 2017
Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 DeficiencyCarsten Speckmann, Sushree Sangita Sahoo, Marta Rizzi, et al.Frontiers in Immunology|May 17, 2017
Clinical and Molecular Heterogeneity of RTEL1 DeficiencyCarsten Speckmann, Sushree Sangita Sahoo, Marta Rizzi, et al.Neurogenetics|October 4, 2011
New mutations in the ATM gene and clinical data of 25 AT patientsIlja Demuth, Véronique Dutrannoy, Wilson Marques, et al.Blood|January 29, 2011
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutationsMaria Castella, Roser Pujol, Elsa Callén, et al.Science (New York, N.Y.)|January 5, 2008
Mutations in the pericentrin (PCNT) gene cause primordial dwarfismAnita Rauch, Christian T Thiel, Detlev Schindler, et al.Human Mutation|September 27, 2016
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational ProspectsKoutaro Yokote, Sirisak Chanprasert, Lin Lee, et al.Pageof 13