Josefina Perez Maturo

Publication Activity (10 Years)

Years Active: 2019-2020
Publications (10 Years): 2

Top Topics

Circulating Tumor

Muscular Dystrophy

Dna Damage Response

Top Venues

American journal of medical genetics. Part A

Movement disorders clinical practice

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

Publications

Josefina Perez Maturo, Marcela Gonzalez Cid, Lucia Zavala, Sergio Rodriguez Quiroga, Marcelo Andres Kauffman
Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again. Movement disorders clinical practice 7 (6) (2020)
Josefina Perez Maturo, Patricia Vega, Nancy Medina, Valeria Salinas, Micaela Pauni, Guillermo Agosta, Javier Muntadas Rausei, Marcelo Kauffman
Inferring parental gonadal mosaicism in LMNA-associated muscular dystrophy by ultra-deep next generation sequencing: A sensitive approach providing valuable information for genetic counseling. American journal of medical genetics. Part A 179 (6) (2019)