Mario Solís

5PUBLICATIONS
15CO-AUTHORS
Evolution of developmental systemsGene expression (incl. microarray and other genome-wide approaches)Predictive and prognostic markersNeurogeneticsGene and molecular therapy
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (5)

|Jul 02, 2022
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.

Marta Pacio-Miguez, Manuel Parrón-Pajares, Christopher T Gordon

|Sep 13, 2021
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

Lucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona

|Dec 11, 2020
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.

Sofía M Siccha, Anna María Cueto, Manuel Parrón-Pajares

|Aug 19, 2020
Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.

Marta Pacio Miguez, Fernando Santos-Simarro, Sixto García-Miñaúr

|Nov 06, 2019
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.

Jair Tenorio, Pablo Alarcón, Pedro Arias

Pageof 1

Frequent Collaborators

4 joint publications

María Palomares-Bralo

4 joint publications

Fernando Santos-Simarro

2 joint publications

Marta Pacio-Miguez

2 joint publications

Karen E Heath