Concepedia

Josefina Pérez Maturo

JP

Statistics

Publications

2

Citations

32

H-Index

2

Active since

2020

Affiliations

Hospital Ramos Mejía(Current)

Consejo Nacional de Investigaciones Científicas y Técnicas

Austral University

Josefina Pérez Maturo is an author at Hospital Ramos Mejía specializing in medical genetics, life sciences, and genetics.

ORCID

Publications per year

2020–2021

2

Publications

2

Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation

Valeria Salinas, Nerina Martínez, Josefina Pérez Maturo et al. · European Journal of Medical Genetics · 2021 · 20 citations

, , +17

Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time

Josefina Pérez Maturo, Lucía Zavala, Patricia Vega et al. · Journal of Human Genetics · 2020 · 12 citations

, , +12

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