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Orphanet Journal of Rare Diseases|January 17, 2007
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failureBernd Gruhn, Joerg Seidel, Felix Zintl, et al.Oncogene|July 16, 2002
SV40 large T-antigen disturbs the formation of nuclear DNA-repair foci containing MRE11Martin Digweed, Ilja Demuth, Susanne Rothe, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|January 8, 2020
RAD50 regulates mitotic progression independent of DNA repair functionsLea Völkening, Anna Vatselia, Girmay Asgedom, et al.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.American Journal of Human Genetics|February 22, 2002
Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive conditionHeidemarie Neitzel, Luitgard M Neumann, Detlev Schindler, et al.Plos One|September 7, 2012
A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cellsIoannis Gavvovidis, Isabell Rost, Marc Trimborn, et al.Cell Cycle (Georgetown, Tex.)|December 15, 2010
MCPH1 patient cells exhibit delayed release from DNA damage-induced G2/M checkpoint arrestIoannis Gavvovidis, Charlotte Pöhlmann, Juan Alberto Marchal, et al.Human Mutation|October 4, 2012
Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCPBeatrice Schuster, Kerstin Knies, Chantal Stoepker, et al.Proceedings of the National Academy of Sciences of the United States of America|November 6, 2013
Visualization of local DNA unwinding by Mre11/Rad50/Nbs1 using single-molecule FRETBrian Cannon, Jeffrey Kuhnlein, Soo-Hyun Yang, et al.Acta Paediatrica (Oslo, Norway : 1992)|December 9, 2010
Hepatoblastoma in a 4-year-old girl with Fanconi anaemiaSascha Kopic, Katharina Eirich, Beatrice Schuster, et al.Pageof 13