Manel Baena

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

Jonàs Juan‐Mateu, Lidia González‐Quereda, Maria José Rodríguez et al. · PLoS ONE · 2015 · 143 citations · Full text

Dmd Mutations, Engineering, Genetics +18

The R71G<i>BRCA1</i>is a founder Spanish mutation and leads to aberrant splicing of the transcript

Ana Vega, Berta Campos, Brigitte Bressac–de Paillerets et al. · Human Mutation · 2001 · 118 citations · Full text

Genetics, Rna Splicing, Genetic Epidemiology +18

RNA analysis of eight<i>BRCA1</i>and<i>BRCA2</i>unclassified variants identified in breast/ovarian cancer families from Spain

Berta Campos, Montserrat Domènech, Manel Baena et al. · Human Mutation · 2003 · 39 citations · Full text

Rna Analysis, Germ-line Mutations, Engineering +17

Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites

Adoración Venceslá, María Ángeles Corral-Rodríguez, Manel Baena et al. · Blood · 2008 · 18 citations · Full text

Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale

R. Belvís, Eduardo F. Tizzano, Joan Martí‐Fàbregas et al. · Clinical Neurology and Neurosurgery · 2009 · 18 citations

Neurobiology Of Disease, Genetic Disorder, Stroke +8