Estíbaliz Barredo Valderrama

机构：Hospital General Universitario Gregorio Marañón · ORCID：0000-0002-9658-3233

发表论文 34 篇 · 总被引 270 次 · h-index 9

代表论文

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy (2021 · Brain · 被引 55)
Pharmacological interaction between valproic acid and carbapenem: What about levels in pediatrics? (2014 · European Journal of Paediatric Neurology · 被引 27)
Outcome of arterial ischemic stroke in children with heart disease (2017 · European Journal of Paediatric Neurology · 被引 19)
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia (2024 · Journal of Clinical Immunology · 被引 16)
Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution (2020 · Molecular Genetics and Metabolism · 被引 11)
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization (2023 · Genome Medicine · 被引 9)