Víctor L Ruiz-Pérez

5PUBLICATIONS
21CO-AUTHORS
Neurology and neuromuscular diseasesBiomedical imagingGene mappingCardiovascular medicine and haematology not elsewhere classifiedAnthropological genetics
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Publications (5)

|Sep 30, 2025
N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder.

Asier Iturrate, Nurit Assia Batzir, Ranit Jaron

|Sep 01, 2021
3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease.

Erika Kague, Francesco Turci, Elis Newman

|Jan 14, 2021
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.

Denise Horn, Elisa Fernández-Núñez, Ricardo Gomez-Carmona

|Sep 09, 2020
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.

Francesca Piceci-Sparascio, Adrian Palencia-Campos, Patricia Soto-Bielicka

|Sep 25, 2019
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.

Adrián Palencia-Campos, María-Luisa Martínez-Fernández, Umut Altunoglu

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Frequent Collaborators

1 joint publications

Eva Bermejo-Sánchez

1 joint publications

Marco Tartaglia

1 joint publications

Alessandro De Luca

1 joint publications

Erika Kague