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Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays

Pérez-Cabornero, Lucia; Infante Sanz, María Del Mar ; Velasco, Eladio; Lastra, Enrique; Miner, Cristina; Duran Dominguez, María Mercedes (2013)
BIN1 induces the formation of T-tubules and adult-like Ca2+ release units in developing cardiomyocytes

De La Mata Sampedro, Ana ; Tajada Esteban, Sendoa ; O'Dwyer, Samantha; Matsumoto, Collin; Dixon, Rose E.; Hariharan, Nirmala; Moreno, Claudia M.; Santana, Luis Fernando (2019)
GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X

Seguí, Nuria; Pineda, Marta; Navarro, Matilde; Lázaro, Conxi; Brunet, Joan; Infante Sanz, María Del Mar ; Duran Dominguez, María Mercedes ; Soto, José Luis; Blanco, Ignacio; Capellá, Gabriel; Valle, Laura (2014)
The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins

Infante Sanz, María Del Mar ; Duran Dominguez, María Mercedes ; Acedo, Alberto; Sánchez Tapia, Eva María; Díez Gómez, Beatríz; Barroso, Alicia; García González, María; Feliubadalo, L.; Lasa, Adriana; Hoya, Miguel de la; Esteban Cardeñosa, Eva; Diez, Orland; Martinez Bouzas, Cristina; Godino, Javier; Teulé, Alexandra; Osorio, Ana; Lastra, Enrique; González Sarmiento, Rogelio; Miner, Cristina; Velasco, Eladio A. (2013)
BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study

de Juan, Inmaculada; Palanca, Sarai; Domenech, Asunción; Feliubadaló, Lidia; Segura, Ángel; Osorio, Ana; Chirivella, Isabel; de la Hoya, Miguel; Sánchez, Ana Beatriz; Infante Sanz, María Del Mar ; Tena, Isabel; Diez, Orland; Garcia-Casado, Zaida; Vega, Ana; Teulé, Àlex; Barroso, Alicia; Pérez, Pedro; Duran Dominguez, María Mercedes ; Carrasco, Estela; Juan-Fita, Mª José; Murria, Rosa; Llop, Marta; Barragan, Eva; Izquierdo, Ángel; Benítez, Javier; Caldés, Trinidad; Salas, Dolores; Bolufer, Pascual (2015)

DEP06 - Artículos de revista: Envíos recientes

Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays ﻿

BIN1 induces the formation of T-tubules and adult-like Ca2+ release units in developing cardiomyocytes ﻿

GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X ﻿

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins ﻿

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study ﻿

Evaluating the Effect of Unclassified Variants Identified in MMR Genes Using Phenotypic Features, Bioinformatics Prediction, and RNA Assays

BIN1 induces the formation of T-tubules and adult-like Ca2+ release units in developing cardiomyocytes

GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study