Victor L Ruiz-Perez (Víctor L Ruiz-Pérez)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2019-2021
Publications (10 Years): 4

Top Venues

Human mutation

Bone research

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Erika Kague, Francesco Turci, Elis Newham, Yushi Yang, Kate Robson Brown, Mona S Aglan, Ghada A Otaify, Samia Ali Temtamy, Victor L Ruiz-Perez, Stephen J Cross, C Patrick Royall, Paul Eckhard Witten, Christina L Hammond
3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc disease. Bone research 9 (1) (2021)
Denise Horn, Elisa Fernández-Núñez, Ricardo Gomez-Carmona, Ana Rivera-Barahona, Julian Nevado, Sarina Schwartzmann, Nadja Ehmke, Pablo Lapunzina, Ghada A Otaify, Samia Temtamy, Mona Aglan, Felix Boschann, Victor L Ruiz-Perez
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly. Genetics in medicine : official journal of the American College of Medical Genetics 23 (4) (2021)
Francesca Piceci-Sparascio, Adrian Palencia-Campos, Patricia Soto-Bielicka, Angela D'Anzi, Valentina Guida, Jessica Rosati, Jose A Caparros-Martin, Isabella Torrente, M Cecilia D'Asdia, Paolo Versacci, Silvana Briuglia, Pablo Lapunzina, Tartaglia Marco, Bruno Marino, M Cristina Digilio, Victor L Ruiz-Perez, Alessandro De Luca
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. Human mutation 41 (12) (2020)
Adrián Palencia-Campos, María-Luisa Martínez-Fernández, Umut Altunoglu, Patricia Soto-Bielicka, Antonio Torres, Purificación Marín, Elena Aller, Leyli Şentürk, Ömer Berköz, Mehmet Yıldıran, Hülya Kayserili, Elena Gil-Camarero, Gloria Colli-Lista, Amparo Sanchís-Calvo, Alba Carretero, null null, Encarna Guillén-Navarro, Vanesa López-González, María Ballesta-Martínez, Jordi Rosell, Mona S Aglan, Samia Temtamy, Ghada A Otaify, Lourdes Cuevas-Catalina, María-Nieves Torres-Saavedra, Julian Nevado, Jair Tenorio, Pablo Lapunzina, Eva Bermejo-Sánchez, Victor L Ruiz-Perez
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B. Human mutation 41 (1) (2019)

Victor L Ruiz-Perez.css-eqlu8i{font-size:small;padding-left:4px;} (Víctor L Ruiz-Pérez)

Publication Activity (10 Years)

Top Topics

Top Venues

Victor L Ruiz-Perez (Víctor L Ruiz-Pérez)