Ana Arteche-López
6PUBLICATIONS
17CO-AUTHORS
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Publications (6)
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|Jul 29, 2023
Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the <i>PERP</i> Gene Associated with Autosomal Recessive Erythrokeratoderma.Adrián González-Quintana, Rocío Garrido-Moraga, Sara I Palencia-Pérez
|May 13, 2023
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.Mariana I Muñoz-García, María Paz Guerrero-Molina, Carlos Pablo de Fuenmayor-Fernández de la Hoz
|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
|Jul 16, 2021
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.A Arteche-López, M I Álvarez-Mora, M T Sánchez Calvin
|Apr 30, 2021
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.Ana Arteche-López, Maria José Gómez Rodríguez, Maria Teresa Sánchez Calvin
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Frequent Collaborators
5 joint publications
Juan Francisco Quesada-Espinosa
4 joint publications
Rubén Pérez de la Fuente
3 joint publications
Miguel A Martin
2 joint publications
Jose Miguel Lezana Rosales
1 joint publications
Maria José Gómez Rodríguez
1 joint publications
Maria Teresa Sánchez Calvin
1 joint publications
Carmen Palma Milla
1 joint publications
Irene Gómez-Manjón
1 joint publications
Irene Hidalgo Mayoral
1 joint publications
Maria Isabel Alvarez-Mora