Ana Arteche-López

6PUBLICATIONS
17CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Medical biochemistry - proteins and peptides (incl. medical proteomics)Cell and nuclear divisionGene mappingGene expression (incl. microarray and other genome-wide approaches)
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Publications (6)

|Jul 29, 2023
Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP 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