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American Journal of Medical Genetics. Part A|November 22, 2016
High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndromeNelson Purizaca-Rosillo, Takayasu Mori, Yamali Benites-Cóndor, et al.Frontiers in Genetics|July 13, 2013
DNA damage accumulation and TRF2 degradation in atypical Werner syndrome fibroblasts with LMNA mutationsBidisha Saha, Galynn Zitnik, Simon Johnson, et al.Plos One|May 4, 2010
A flanking gene problem leads to the discovery of a Gprc5b splice variant predominantly expressed in C57Bl/6J mouse brain and in maturing neuronsBethany H Cool, Guy C-K Chan, Lin Lee, et al.Aging Pathobiology and Therapeutics|September 21, 2020
Novel LMNA mutations in Greek and Myanmar Patients with Progeroid Features and Cardiac ManifestationsRenuka Kandhaya-Pillai, Fuki M Hisama, Stephanie A Bucks, et al.BMC Medical Genetics|March 3, 2007
SOD2 polymorphisms: unmasking the effect of polymorphism on splicingJing Shao, Lishan Chen, Brian Marrs, et al.Biochemical and Biophysical Research Communications|December 8, 2006
Collagen expression in fibroblasts with a novel LMNA mutationDesiree Nguyen, Dru F Leistritz, Lesley Turner, et al.Aging Cell|July 2, 2019
Epigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processesAnna Maierhofer, Julia Flunkert, Junko Oshima, et al.Age and Ageing|February 6, 2008
Association between APOE epsilon 2/epsilon 3/epsilon 4 polymorphism and disability severity in a national long-term care survey sampleAlexander Kulminski, Svetlana V Ukraintseva, Konstantin G Arbeev, et al.DNA and Cell Biology|November 22, 2019
Inactivating Mutations in Exonuclease and Polymerase Domains in DNA Polymerase Delta Alter Sensitivities to Inhibitors of dNTP SynthesisJiaming Zhang, Deyin Hou, James Annis, et al.Pageof 13