A. García Oguiza

Statistics

Publications

Citations

119

H-Index

Active since

2014

Affiliations

Hospital Sant Joan de Déu Barcelona(Current)

Hospital Universitario Miguel Servet

Centre for Biomedical Network Research on Rare Diseases

A. García Oguiza is an author at Hospital Sant Joan de Déu Barcelona specializing in intellectual disabilities, neurodevelopmental genetics, and genetics.

ORCID

Publications per year

2014–2021

Publications

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna et al. · Nature Communications · 2021 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

María López, A. García Oguiza, Judith Armstrong et al. · BMC Medical Genetics · 2018 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006–2010

Javier López Pisón, M.C. García-Jiménez, L. Monge Galindo et al. · Neurología (English Edition) · 2014 · 20 citations · Full text

Medicine, Neurology, Pediatrics +17

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