Maria Sol Touzon

4PUBLICATIONS
21CO-AUTHORS
Infant and child healthEpigenetics (incl. genome methylation and epigenomics)Haematological tumoursDevelopmental genetics (incl. sex determination)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (4)

|Mar 24, 2026
KCNJ11-associated infantile epileptic spasms syndrome and neonatal diabetes.

Bárbara Juliana Gonzalez, Matías Juanes, Maria Sol Touzon

|Feb 12, 2026
GRIN2D-Related Developmental and Epileptic Encephalopathy Associated With Polymorphic Seizures Including Epileptic Spasms.

L R Obregón Gómez, M Juanes, M S Touzon

|Jun 05, 2020
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (<i>WT1</i>) gene.

Caroline Eozenou, Nitzan Gonen, Maria Sol Touzon

|Sep 26, 2018
Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

Maria Sol Touzon, Natalia Perez Garrido, Roxana Marino

Pageof 1

Frequent Collaborators

2 joint publications

Leidy Rossana Obregon Gomez

2 joint publications

Matías Juanes

2 joint publications

Cristina Alonso

2 joint publications

Gabriela Reyes Valenzuela