Ana Victoria Marco-Hernández

6PUBLICATIONS
42CO-AUTHORS
Medical biotechnology not elsewhere classifiedElectronic and magnetic properties of condensed matter; superconductivityCentral nervous systemGene expression (incl. microarray and other genome-wide approaches)Optical technology
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Publications (6)

|Aug 17, 2025
Second Case of Type 9 Non-Photosensitive Trichothiodystrophy Caused by Homozygous Variant in the MARS1 Gene.

Miguel Antonio Lasheras-Pérez, Francisco Martínez-Castellano, Mónica Pozuelo-Ruiz

|Jul 08, 2024
New variants expand the neurological phenotype of COQ7 deficiency.

María Alcázar Fabra, Abraham J Paredes-Fuentes, Manuel Torralba Carnerero

|Nov 25, 2023
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.

Dolores Martínez-Rubio, Isabel Hinarejos, Herminia Argente-Escrig

|Jan 24, 2022
Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development.

Ana Victoria Marco-Hernández, Alfonso Caro-Llopis, Pilar Rubio Sánchez

|Nov 29, 2021
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.

Ana Victoria Marco-Hernández, Miguel Tomás-Vila, Alejandro Montoya-Filardi

|Sep 30, 2021
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.

Ana Victoria Marco Hernández, Alfonso Caro, Alejandro Montoya Filardi

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Frequent Collaborators

2 joint publications

Alfonso Caro

2 joint publications

Miguel Tomás Vila

2 joint publications

Sandra Monfort

2 joint publications

Francisco Martínez-Castellano