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Molecular and Cellular Biology|September 17, 2005
Control of fetal growth and neonatal survival by the RasGAP-associated endoribonuclease G3BPLatifa Zekri, Karim Chebli, Hélène Tourrière, 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.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.Journal of Human Genetics|December 25, 2019
Variant in ERAP1 promoter region is associated with low expression in a patient with a Behçet-like MHC-I-opathyChrysoula Dimopoulou, Jens D Lundgren, Jon Sundal, et al.Familial Cancer|May 11, 2010
Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutationsAne Y Steffensen, Lars Jønson, Bent Ejlertsen, et al.Journal of Medical Case Reports|April 9, 2014
A novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter: a case reportMaria Rossing, Anne-Marie Gerdes, Anders Juul, et al.Melanoma Research|September 10, 2010
Downregulation of miR-125b in metastatic cutaneous malignant melanomaMartin Glud, Maria Rossing, Christoffer Hother, et al.Blood|October 24, 2002
Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiencyRichard van Wijk, Wouter W van Solinge, Claus Nerlov, 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.Clinical Laboratory|October 17, 2017
Concordance of Mutation Detection in Circulating Tumor DNA in Early Clinical Trials Using Different Blood Collection ProtocolsLise B Ahlborn, Mette Madsen, Lars Jonson, et al.Pageof 11