Raquel Rodríguez-López
7PUBLICATIONS
13CO-AUTHORS
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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 IDH3A 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 WNT10A Deficiency.Victoria-Eugenia García-Martínez, Ximo Galiana-Vallés, Otilia Zomeño-Alcalá
|Jul 27, 2022
Homozygous Pro1066Arg MYBPC3 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
