Rubén Pérez de la Fuente
9PUBLICATIONS
89CO-AUTHORS
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Publications (9)
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|Jan 20, 2025
Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.Laura Trujillano, Irene Valenzuela, Mar Costa-Roger
|Apr 06, 2023
Exploring genotype-phenotype correlations in glutaric aciduria type 1.Imke M E Schuurmans, Bianca Dimitrov, Julian Schröter
|Mar 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara
|Oct 17, 2022
New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.Ana Arteche-López, Almudena Avila-Fernandez, Alejandra Damian
|Sep 23, 2022
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.Maria Jose Gómez-Rodríguez, Montserrat Morales-Conejo, Ana Arteche-López
|Sep 20, 2022
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.Emma Soengas-Gonda, Rubén Pérez de la Fuente, Ana Arteche-López
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Frequent Collaborators
6 joint publications
Juan Francisco Quesada-Espinosa
4 joint publications
Ana Arteche-López
3 joint publications
Jose Miguel Lezana-Rosales
2 joint publications
Maria Teresa Sánchez-Calvín
2 joint publications
Carmen Palma-Milla
2 joint publications
Irene Gómez-Manjón
2 joint publications
Maria Isabel Alvarez-Mora
1 joint publications
Miguel A Martin
1 joint publications
Maria José Gómez Rodríguez
1 joint publications
Irene Hidalgo Mayoral