Mario Solís

ORCID

Publication Activity (10 Years)

Years Active: 2019-2022
Publications (10 Years): 5

Top Venues

American journal of medical genetics. Part A

European journal of endocrinology

European journal of human genetics : EJHG

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

Publications

Marta Pacio-Míguez, Manuel Parrón-Pajares, Christopher T Gordon, Fernando Santos-Simarro, Carmen Rodríguez Jiménez, Rocio Mena, Inmaculada Rueda Arenas, Victoria Eugenia F Montaño, María Fernández, Mario Solís, Ángela Del Pozo, Jeanne Amiel, Sixto García-Miñaur, Maria Palomares-Bralo
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype. American journal of medical genetics. Part A 188 (9) (2022)
Lucia Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona, Francisca Díaz-González, Silvia Modamio-HØybjØr, Carolina de la Torre, Julián Nevado, Pablo Ruiz-Ocaña, Carolina Bezanilla-López, Pablo Prieto, Pilar Bahíllo-Curieses, Atilano Carcavilla, Inés Mulero-Collantes, Ana C Barreda-Bonis, Jaime Cruz-Rojo, Joaquín Ramírez-Fernández, José Antonio Bermúdez de la Vega, Andre M Travessa, Jesús González de Buitrago Amigo, Ángela Del Pozo, Elena Vallespin, Mario Solís, Carlos Goetz, Ángel Campos-Barros, Fernando Santos-Simarro, Isabel González-Casado, Purificación Ros-Pérez, Manuel Parrón-Pajares, Karen E Heath
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies. European journal of endocrinology 185 (5) (2021)
Sofía M Siccha, Anna María Cueto, Manuel Parrón-Pajares, Gaspar González-Morán, Marta Pacio-Miguez, Ángela Del Pozo, Mario Solís, Carmen Rodriguez-Jimenez, Silvia Caino, Virginia Fano, Karen E Heath, Sixto García-Miñaúr, Maria Palomares-Bralo, Fernando Santos-Simarro
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature. American journal of medical genetics. Part A 185 (3) (2020)
Marta Pacio-Míguez, Fernando Santos-Simarro, Sixto García-Miñaúr, Ramón Velázquez Fragua, Ángela Del Pozo, Mario Solís, Carmen Jiménez Rodríguez, Virginia Rufo-Rabadán, Victoria Eugenia Fernandez, Inmaculada Rueda, Maria Victoria Gomez Del Pozo, Natividad Gallego, Pablo Lapunzina, Maria Palomares-Bralo
Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability. American journal of medical genetics. Part A 182 (10) (2020)
Jair Antonio Tenorio Castaño, Pablo Alarcón, Pedro Arias, Irene Dapía, Sixto García-Miñaur, Maria 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, null null, Pablo Lapunzina
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 28 (4) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Mario Solís