Concepedia

María Juliana Ballesta‐Martínez

MJ

Statistics

Publications

25

Citations

1.3K

H-Index

18

Active since

2009

Affiliations

Hospital Universitario Virgen de la Arrixaca(Current)

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Universidad Autónoma de Madrid

Instituto de Investigación de Enfermedades Raras

María Juliana Ballesta‐Martínez is an author at Hospital Universitario Virgen de la Arrixaca specializing in genetic disorders, genetics, and human genetics.

ORCID

Publications per year

2009–2023

25

Publications

25

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu et al. · Scientific Reports · 2021 · 160 citations · Full text

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A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

Gemma Bullich, Andrea Domingo-Gallego, Iván Vargas et al. · Kidney International · 2018 · 156 citations

, , +15

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

Karim Kouz, Stephanie Spranger, Diana Mitter et al. · Genetics in Medicine · 2016 · 104 citations · Full text

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Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

Maria Trinidad Puig-Hervás, Samia A. Temtamy, Mona Aglan et al. · Human Mutation · 2012 · 98 citations

, , +14

A new seipin-associated neurodegenerative syndrome

Encarna Guillén‐Navarro, Sofía Sánchez‐Iglesias, Rosario Domingo‐Jiménez et al. · Journal of Medical Genetics · 2013 · 78 citations · Full text

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