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Navegar por autor "Fachal Vilar, Laura"

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      A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium 

      2012- Fachal Vilar, Laura; Santamaría Cadavid, María; Blanco Pérez, Ana
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      A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1 

      2014- Fachal Vilar, Laura; Vega Gliemmo, Ana; Carracedo Álvarez, Ángel; Sanchez Garcia, Manuel; Lobato Busto, Ramón; [et al.]
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      Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. 

      2011- Fachal Vilar, Laura; Toribio Pérez, Jaime; Vega Gliemmo, Ana; Ginarte Val, Manuel Javier; Carracedo Álvarez, Ángel; [et al.]
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      Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients 

      2012- Fachal Vilar, Laura; Vega Gliemmo, Ana; Carracedo Álvarez, Ángel; Sanchez Garcia, Manuel; Lobato Busto, Ramón; [et al.]
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      Characterization of BRCA1 and BRCA2 splicing variants: A collaborative report by ENIGMA consortium members 

      2012- Fachal Vilar, Laura; Vega Gliemmo, Ana; Blanco Pérez, Ana
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      CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families 

      2013- Fachal Vilar, Laura; Vega Gliemmo, Ana; Carracedo Álvarez, Ángel; Santamariña Pena, Marta; Blanco Pérez, Ana [et al.]
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      Evaluation of a 5-Tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: Inter-reviewer variability and promotion of minimum reporting guidelines 

      2013- Fachal Vilar, Laura; Vega Gliemmo, Ana; Santamariña Pena, Marta; Blanco Pérez, Ana
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      Identification of a Locus at 2q24 Associated With Susceptibility for Late Radiation Therapy Toxicity Through Performance of a 3-Stage Genome-Wide Association Study 

      2014- Fachal Vilar, Laura; Vega Gliemmo, Ana; Gómez Caamaño, Antonio
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      Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis 

      2014- Fachal Vilar, Laura; Toribio Pérez, Jaime; Vega Gliemmo, Ana; Ginarte Val, Manuel Javier; Carracedo Álvarez, Ángel; [et al.]
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      Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers 

      2014- Fachal Vilar, Laura; Vega Gliemmo, Ana
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      Multiple Local and Recent Founder Effects of TGM1 in Spanish Families 

      2012- Fachal Vilar, Laura; Rodríguez Pazos, Laura; Ginarte Val, Manuel Javier; Toribio Pérez, Jaime; Salas Ellacuriaga, Antonio; [et al.]
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      No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population 

      2015- Fachal Vilar, Laura; Vega Gliemmo, Ana; Sobrido Gómez, María Jesús; Quintans Castro, Beatriz; Camiña Tato, Montserrat; [et al.]
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      SNPS in DNA repair and damage detection genes and acute normal tissue toxicity in prostate cancer patients 

      2012- Fachal Vilar, Laura; Vega Gliemmo, Ana; Carracedo Álvarez, Ángel; Sanchez Garcia, Manuel; Lobato Busto, Ramón; [et al.]
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