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American Journal of Human Genetics|April 17, 2007
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotypeReinhard Kalb, Kornelia Neveling, Holger Hoehn, 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.Journal of Medical Genetics|November 16, 2006
A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research NetworkJosé Antonio Casado, Elsa Callén, Ariana Jacome, 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.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2023
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescenceLuisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, et al.Blood|January 29, 2011
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutationsMaria Castella, Roser Pujol, Elsa Callén, et al.Pageof 12