Showing results (41-50 of 66) with videos related to
Sort By:
Pageof 7
Human Mutation|October 8, 2005
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotypeMarc Trimborn, Reyk Richter, Nadine Sternberg, et al.The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society|March 8, 2005
QF-PCR examination of parental and meiotic origin of trisomy 21 in Central and Eastern EuropeMarina Machatkova, Martina Brouckova, Milada Matejckova, et al.Human Molecular Genetics|April 19, 2011
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIPFabienne Ropers, Emmanuel Derivery, Hao Hu, et al.Aging|June 22, 2020
Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndromeRaneem Habib, Ryong Kim, Heidemarie Neitzel, et al.Human Molecular Genetics|August 31, 2004
An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viabilityIlja Demuth, Pierre-Olivier Frappart, Gabriele Hildebrand, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|August 13, 2015
Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical ApplicationBastian Salewsky, Gabriele Hildebrand, Susanne Rothe, et al.Plos One|May 5, 2009
A systematic proteomic study of irradiated DNA repair deficient Nbn-miceAnna Melchers, Lars Stöckl, Janina Radszewski, et al.Scientific Reports|June 23, 2025
Evidence for a transgenerational mutational signature from ionizing radiation exposure in humansFabian Brand, Hannah Klinkhammer, Alexej Knaus, et al.Human Molecular Genetics|January 18, 2006
Mild Nijmegen breakage syndrome phenotype due to alternative splicingRaymonda Varon, Véronique Dutrannoy, Georg Weikert, et al.American Journal of Human Genetics|June 17, 2004
Mutations in microcephalin cause aberrant regulation of chromosome condensationMarc Trimborn, Sandra M Bell, Clive Felix, et al.Pageof 7