Victor L Ruiz-Pérez

Affiliations

Instituto de Investigaciones Biomédicas "Alberto Sols", Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), and CIBER de Enfermedades Raras (CIBERER), Madrid, Spain.

Publications (6)

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.

European journal of human genetics : EJHG

Avec: Jair Tenorio , Pablo Alarcón , Pedro Arias , Irene Dapía , Sixto García-Miñaur , María Palomares Bralo , Jaume Campistol , Salvador Climent , Irene Valenzuela , Sergio Ramos , Antonio Martínez Monseny , Fermina López Grondona , Javier Botet , Mercedes Serrano , Mario Solís , Fernando Santos-Simarro , Sara Álvarez , Gisela Teixidó-Tura , Alberto Fernández Jaén , Gema Gordo , María Belén Bardón Rivera , Julián Nevado , Alicia Hernández , Juan C Cigudosa , Víctor L Ruiz-Pérez , Eduardo F Tizzano , Auteur inconnu , Pablo Lapunzina

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.

Human mutation

Avec: 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 , Auteur inconnu , 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 , Víctor L Ruiz-Pérez

The portrayal of dwarfism without skeletal dysplasia in art: Proportionate short stature due to growth hormone deficiency and other disorders.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Pablo Lapunzina , Jair Tenorio-Castaño , Julián Nevado , Ángel Campos Barros , Harry Pachajoa , Víctor L Ruiz-Pérez , Eduardo E Castilla

Consolidating the association of biallelic

Journal of medical genetics

Avec: Reza Maroofian , Stephanie Efthymiou , Mohnish Suri , Fatima Rahman , Maha S Zaki , Shazia Maqbool , Najwa Anwa , Victor L Ruiz-Pérez , Shira Yanovsky-Dagan , Orly Elpeleg , Sniya Sudhakar , Kshitij Mankad , Tamar Harel , Henry Houlden

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.

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

Avec: Auriane Cospain , Ana Rivera-Barahona , Erwan Dumontet , Blanca Gener , Isabelle Bailleul-Forestier , Isabelle Meyts , Guillaume Jouret , Bertrand Isidor , Carole Brewer , Wim Wuyts , Leen Moens , Selket Delafontaine , Wayne Wing Keung Lam , Kris Van Den Bogaert , Anneleen Boogaerts , Emmanuel Scalais , Thomas Besnard , Benjamin Cogne , Christophe Guissard , Paul Rollier , Wilfrid Carre , Regis Bouvet , Karin Tarte , Ricardo Gómez-Carmona , Pablo Lapunzina , Sylvie Odent , Marie Faoucher , Christele Dubourg , Víctor L Ruiz-Pérez , Koen Devriendt , Laurent Pasquier , Luis A Pérez-Jurado

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.

Clinical genetics

Avec: Jair Tenorio , Pablo Alarcón , Pedro Arias , Feliciano J Ramos , Jaume Campistol , Salvador Climent , Sixto García-Miñaur , Irene Dapía , Alicia Hernández , Julián Nevado , Mario Solís , Víctor L Ruiz-Pérez , Auteur inconnu , Pablo Lapunzina

Réseau de co-auteurs

Víctor L Ruiz-Pérez 5 collaborations

Pablo Lapunzina 5 collaborations

Jair Tenorio 3 collaborations

Julián Nevado 3 collaborations

None None 3 collaborations

Pablo Alarcón 2 collaborations

Pedro Arias 2 collaborations

Irene Dapía 2 collaborations

Sixto García-Miñaur 2 collaborations

Jaume Campistol 2 collaborations

Salvador Climent 2 collaborations

Mario Solís 2 collaborations

Alicia Hernández 2 collaborations

María Palomares Bralo 1 collaboration

Irene Valenzuela 1 collaboration

Sergio Ramos 1 collaboration

Antonio Martínez Monseny 1 collaboration

Fermina López Grondona 1 collaboration

Javier Botet 1 collaboration

Mercedes Serrano 1 collaboration

Fernando Santos-Simarro 1 collaboration

Sara Álvarez 1 collaboration

Gisela Teixidó-Tura 1 collaboration

Alberto Fernández Jaén 1 collaboration

Gema Gordo 1 collaboration

María Belén Bardón Rivera 1 collaboration

Juan C Cigudosa 1 collaboration

Eduardo F Tizzano 1 collaboration

Adrián Palencia-Campos 1 collaboration

María-Luisa Martínez-Fernández 1 collaboration

Umut Altunoglu 1 collaboration

Patricia Soto-Bielicka 1 collaboration

Antonio Torres 1 collaboration

Purificación Marín 1 collaboration

Elena Aller 1 collaboration

Leyli Şentürk 1 collaboration

Ömer Berköz 1 collaboration

Mehmet Yıldıran 1 collaboration

Hülya Kayserili 1 collaboration

Elena Gil-Camarero 1 collaboration

Gloria Colli-Lista 1 collaboration

Amparo Sanchís-Calvo 1 collaboration

Alba Carretero 1 collaboration

Encarna Guillén-Navarro 1 collaboration

Vanesa López-González 1 collaboration

María Ballesta-Martínez 1 collaboration

Jordi Rosell 1 collaboration

Mona S Aglan 1 collaboration

Samia Temtamy 1 collaboration

Ghada A Otaify 1 collaboration

Lourdes Cuevas-Catalina 1 collaboration

María-Nieves Torres-Saavedra 1 collaboration

Julian Nevado 1 collaboration

Eva Bermejo-Sánchez 1 collaboration

Jair Tenorio-Castaño 1 collaboration

Ángel Campos Barros 1 collaboration

Harry Pachajoa 1 collaboration

Eduardo E Castilla 1 collaboration

Reza Maroofian 1 collaboration

Stephanie Efthymiou 1 collaboration

Mohnish Suri 1 collaboration

Fatima Rahman 1 collaboration

Maha S Zaki 1 collaboration

Shazia Maqbool 1 collaboration

Najwa Anwa 1 collaboration

Shira Yanovsky-Dagan 1 collaboration

Orly Elpeleg 1 collaboration

Sniya Sudhakar 1 collaboration

Kshitij Mankad 1 collaboration

Tamar Harel 1 collaboration

Henry Houlden 1 collaboration

Auriane Cospain 1 collaboration

Ana Rivera-Barahona 1 collaboration

Erwan Dumontet 1 collaboration

Blanca Gener 1 collaboration

Isabelle Bailleul-Forestier 1 collaboration

Isabelle Meyts 1 collaboration

Guillaume Jouret 1 collaboration

Bertrand Isidor 1 collaboration

Carole Brewer 1 collaboration

Wim Wuyts 1 collaboration

Leen Moens 1 collaboration

Selket Delafontaine 1 collaboration

Wayne Wing Keung Lam 1 collaboration

Kris Van Den Bogaert 1 collaboration

Anneleen Boogaerts 1 collaboration

Emmanuel Scalais 1 collaboration

Thomas Besnard 1 collaboration

Benjamin Cogne 1 collaboration

Christophe Guissard 1 collaboration

Paul Rollier 1 collaboration

Wilfrid Carre 1 collaboration

Regis Bouvet 1 collaboration

Karin Tarte 1 collaboration

Ricardo Gómez-Carmona 1 collaboration

Sylvie Odent 1 collaboration

Marie Faoucher 1 collaboration

Christele Dubourg 1 collaboration

Koen Devriendt 1 collaboration

Laurent Pasquier 1 collaboration

Luis A Pérez-Jurado 1 collaboration

Feliciano J Ramos 1 collaboration