Anna Duat Rodríguez

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 188 citations · Full text

Genetics, Genetic Epidemiology, Pathology +17

Neurofibromatosis Type 1 Associated With Moyamoya Syndrome in Children

Anna Duat Rodríguez, Fernando Carceller Lechón, Miguel Ángel López Pino et al. · Pediatric Neurology · 2013 · 41 citations

Down Syndrome, Mendelian Disorder, Neurological Disorder +6

Tocilizumab in pediatric refractory status epilepticus and acute epilepsy: Experience in two patients

Verónica Cantarín Extremera, María Jiménez‐Legido, Anna Duat Rodríguez et al. · Journal of Neuroimmunology · 2020 · 39 citations

Acute Epilepsy, Pediatric Neurosurgery, Pediatrics +2

Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series

Beatriz Rodrigo‐Nicolás, Elena Bueno‐Martínez, A. Martín‐Santiago et al. · British Journal of Dermatology · 2018 · 34 citations · Full text

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

Daniel Greene, Koenraad De Wispelaere, Marta Codina‐Solà et al. · Nature Genetics · 2025 · 24 citations · Full text