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Breast Cancer Research and Treatment|March 1, 2015
Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenicLise B Ahlborn, Mette Dandanell, Ane Y Steffensen, et al.Breast Cancer Research and Treatment|March 10, 2009
The silent mutation nucleotide 744 G --> A, Lys172Lys, in exon 6 of BRCA2 results in exon skippingThomas V O Hansen, Ane Y Steffensen, Lars Jønson, et al.European Journal of Human Genetics : EJHG|March 27, 2014
Functional characterization of BRCA1 gene variants by mini-gene splicing assayAne Y Steffensen, Mette Dandanell, Lars Jønson, et al.The EMBO Journal|March 17, 2006
RNA-binding IMPs promote cell adhesion and invadopodia formationJonas Vikesaa, Thomas V O Hansen, Lars Jønson, et al.The Journal of Molecular Diagnostics : JMD|August 21, 2017
Next-Generation Sequencing-Based Detection of Germline Copy Number Variations in BRCA1/BRCA2: Validation of a One-Step Diagnostic WorkflowAne Y Schmidt, Thomas V O Hansen, Lise B Ahlborn, et al.Breast Cancer Research and Treatment|May 4, 2010
Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancerThomas V O Hansen, Lars Jønson, Anders Albrechtsen, et al.Familial Cancer|August 27, 2014
Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutationsLise B Ahlborn, Ane Y Steffensen, Lars Jønson, et al.Journal of Medical Genetics|January 22, 2015
Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short statureElsebet Ostergaard, Woranontee Weraarpachai, Kirstine Ravn, et al.Transfusion|April 5, 2013
Next-generation sequencing: proof of concept for antenatal prediction of the fetal Kell blood group phenotype from cell-free fetal DNA in maternal plasmaKlaus Rieneck, Mads Bak, Lars Jønson, et al.BMC Medical Genetics|July 4, 2008
Novel de novo BRCA2 mutation in a patient with a family history of breast cancerThomas V O Hansen, Marie Luise Bisgaard, Lars Jønson, et al.Pageof 5