Josefina Perez-Maturo

3PUBLICATIONS
11CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Nanotoxicology, health and safetyDevelopmental genetics (incl. sex determination)
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Publications (3)

|Jan 08, 2025
Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic.

Luca Marsili, Kevin R Duque, Jesus Abanto

|Aug 11, 2020
Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again.

Josefina Perez Maturo, Marcela Gonzalez Cid, Lucia Zavala

|Mar 27, 2019
Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling.

Josefina Perez Maturo, Patricia Vega, Nancy Medina

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Frequent Collaborators

1 joint publications

Lucia Zavala

1 joint publications

Sergio Rodriguez Quiroga

1 joint publications

Marcelo Andres Kauffman

1 joint publications

Luca Marsili