Concepedia

Iria Roca

IR

10

Publications

374

Citations

10

H-Index

2015

Active since

Affiliations

Instituto de Investigación Sanitaria de Santiago(Current)

Hospital de Cruces

Centre for Biomedical Network Research on Rare Diseases

Universidade de Santiago de Compostela

BioCruces Health research Institute

Iria Roca is an author at Instituto de Investigación Sanitaria de Santiago specializing in medicine, health sciences, and genetics.

ORCID

Top concepts

Publications per year

2015–2019

10

Publications

10

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

Ana Fernández‐Marmiesse, Iria Roca, Felícitas Díaz-Flores et al. · Frontiers in Neuroscience · 2019 · 60 citations · Full text

Vitamin and mineral status in patients with hyperphenylalaninemia

Vanesa Crujeiras Martínez, Luis Aldámiz‐Echevarría, Jaime Dalmau et al. · Molecular Genetics and Metabolism · 2015 · 58 citations · Full text

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Carbohydrate status in patients with phenylketonuria

María L. Couce, Paula Sánchez‐Pintos, Isidro Vitoria et al. · Orphanet Journal of Rare Diseases · 2018 · 55 citations · Full text

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

María L. Couce, Isidro Vitoria, Luis Aldámiz‐Echevarría et al. · Orphanet Journal of Rare Diseases · 2016 · 33 citations · Full text

A novel missense mutation in <i>GRIN2A</i> causes a nonepileptic neurodevelopmental disorder

Ana Fernández‐Marmiesse, Hirofumi Kusumoto, Saray Rekarte et al. · Movement Disorders · 2018 · 33 citations · Full text

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