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Raquel Rodríguez-López

7PUBLICATIONS

13CO-AUTHORS

Neurology and neuromuscular diseasesPhotography, video and lens-based practiceNeurogeneticsHaematologyEndodontics

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Publications (7)

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|Dec 16, 2025

Complete phenotyping of the pathogenic genotype of the NTRK1 gene in early childhood.

Antonio Sierra-Rivera, Altea Esteve-Martínez, Virginia Ballesteros-Cogollos

|Sep 24, 2025

A new genotype of the <i>IDH3A</i> gene causes retinitis pigmentosa, generating functional dyschromatopsia from early childhood.

Nuria Rosell-Saiz, Antonio Sierra-Rivera, Jordi Tortosa-Carreres

|Sep 13, 2025

Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report.

Patricia Tomás-Simó, Antonio Sierra-Rivera, Ana Checa-Ros

|Jan 08, 2025

Diagnostic and Prognostic Value of Angiogenic Status in Hereditary Hemorrhagic Telangiectasia.

Sherlyne Jaimes-Díaz, Gustavo Juan-Samper, Susana Torres-Martínez

|Feb 25, 2023

Dental Phenotype with Minor Ectodermal Symptoms Suggestive of <i>WNT10A</i> Deficiency.

Victoria-Eugenia García-Martínez, Ximo Galiana-Vallés, Otilia Zomeño-Alcalá

|Jul 27, 2022

Homozygous Pro1066Arg <i>MYBPC3</i> Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family.

Raquel Rodríguez-López, Javier García-Planells, Marina Martínez-Matilla

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Frequent Collaborators

2 joint publications

Antonio Sierra-Rivera

1 joint publications

David Albuquerque

1 joint publications

Javier García-Planells

1 joint publications

Marina Martínez-Matilla

1 joint publications

Cristian Pérez-García

1 joint publications

Rafael Salguero-Bodes

1 joint publications

Ximo Galiana-Vallés

1 joint publications

Carmen Llena

1 joint publications

Sherlyne Jaimes-Díaz

1 joint publications

Susana Torres-Martínez

Frequent Collaborators

2 joint publications

Antonio Sierra-Rivera

1 joint publications

David Albuquerque

1 joint publications

Javier García-Planells

1 joint publications

Marina Martínez-Matilla

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