Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

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.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (4)

Sort by Publication Date:

|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

2 joint publications

Roberto Caraballo

2 joint publications

Natalia Perez Garrido

2 joint publications

Roxana Marino

2 joint publications

Esperanza Berensztein

1 joint publications

A Romero

1 joint publications

L Maenza

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

Top Related Videos

Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy

Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy

Published on : Sep 20, 2024

Electrophoretic Delivery of γ-aminobutyric Acid (GABA) into Epileptic Focus Prevents Seizures in Mice

Electrophoretic Delivery of γ-aminobutyric Acid (GABA) into Epileptic Focus Prevents Seizures in Mice

Published on : May 16, 2019

A Possible Zebrafish Model of Polycystic Kidney Disease: Knockdown of <em>wnt5a</em> Causes Cysts in Zebrafish Kidneys

A Possible Zebrafish Model of Polycystic Kidney Disease: Knockdown of <em>wnt5a</em> Causes Cysts in Zebrafish Kidneys

Published on : Dec 02, 2014

See more related videos

Top Related Videos

Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy

Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy

Published on : Sep 20, 2024

Electrophoretic Delivery of γ-aminobutyric Acid (GABA) into Epileptic Focus Prevents Seizures in Mice

Electrophoretic Delivery of γ-aminobutyric Acid (GABA) into Epileptic Focus Prevents Seizures in Mice

Published on : May 16, 2019

A Possible Zebrafish Model of Polycystic Kidney Disease: Knockdown of <em>wnt5a</em> Causes Cysts in Zebrafish Kidneys

A Possible Zebrafish Model of Polycystic Kidney Disease: Knockdown of <em>wnt5a</em> Causes Cysts in Zebrafish Kidneys

Published on : Dec 02, 2014

See more related videos