Showing results (1-10 of 24) with videos related to

Sort By:
Pageof 3
International Journal of Molecular Sciences|July 29, 2023
Choosing Variant Interpretation Tools for Clinical Applications: Context MattersJosu Aguirre, Natàlia Padilla, Selen Özkan, et al.
Scientific Reports|November 26, 2021
RNA assay identifies a previous misclassification of BARD1 c.1977A>G variantPaula Rofes, Marta Pineda, Lídia Feliubadaló, et al.
Breast Cancer Research and Treatment|July 16, 2011
Identification of a new complex rearrangement affecting exon 20 of BRCA1Jesús Del Valle, Olga Campos, Angela Velasco, et al.
Plos One|April 25, 2013
Functional and structural analysis of C-terminal BRCA1 missense variantsFrancisco Quiles, Juana Fernández-Rodríguez, Roberto Mosca, et al.
Breast Cancer Research and Treatment|November 7, 2009
Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genesJesús del Valle, Lídia Feliubadaló, Marga Nadal, et al.
Breast Cancer Research and Treatment|August 15, 2018
Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val)Emma Tudini, Setareh Moghadasi, Michael T Parsons, et al.
American Journal of Physiology. Renal Physiology|June 29, 2007
Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studiesMariona Font-Llitjós, Lídia Feliubadaló, Meritxell Espino, et al.
Breast Cancer Research and Treatment|January 19, 2016
Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNAFrancisco Quiles, Mireia Menéndez, Eva Tornero, et al.
International Journal of Cancer|March 31, 2019
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panelsLídia Feliubadaló, Adrià López-Fernández, Marta Pineda, et al.
BMC Cancer|March 10, 2012
Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer familiesJuana Fernández-Rodríguez, Francisco Quiles, Ignacio Blanco, et al.
Pageof 3