Showing results (101-110 of 127) with videos related to
Sort By:
Pageof 13
Molecular Cell|February 5, 2020
The Alazami Syndrome-Associated Protein LARP7 Guides U6 Small Nuclear RNA Modification and Contributes to Splicing RobustnessDaniele Hasler, Rajyalakshmi Meduri, Maciej Bąk, et al.Nature Genetics|April 20, 2010
Mutation of the RAD51C gene in a Fanconi anemia-like disorderFiona Vaz, Helmut Hanenberg, Beatrice Schuster, et al.Blood|November 4, 2004
A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from SpainElsa Callén, José A Casado, Marc D Tischkowitz, et al.Nature Genetics|January 18, 2011
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtypeChantal Stoepker, Karolina Hain, Beatrice Schuster, et al.Plos One|February 20, 2010
Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 functionMarc Trimborn, Mahdi Ghani, Diego J Walther, et al.Journal of Medical Genetics|March 2, 2019
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutationsNienke J H van Os, Luciana Chessa, Corry M R Weemaes, et al.Blood Advances|June 24, 2025
Long-term outcomes of patients with refractory cytopenia of childhood under observation onlyBeatrice Drexler, Stephan Schwarz-Furlan, Irith Baumann, et al.Blood Advances|January 4, 2018
Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemiaJudith Reina-Castillón, Roser Pujol, Marcos López-Sánchez, et al.Annals of Clinical and Translational Neurology|January 10, 2015
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weaknessHao Hu, Michelle L Matter, Lina Issa-Jahns, et al.American Journal of Human Genetics|April 30, 2013
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemiaMassimo Bogliolo, Beatrice Schuster, Chantal Stoepker, et al.Pageof 13