Concepedia

Rosário Santos

RS

41

Publications

2.1K

Citations

23

H-Index

1993

Active since

Affiliations

Centro de Genética Clínica(Current)

Universidade do Porto

Centro Hospitalar do Porto

Leiden University Medical Center

Centro Hospitalar de Vila Nova de Gaia

Rosário Santos is an author at Centro de Genética Clínica specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

1993–2021

41

Publications

41

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Catherine L. Bladen, David Salgado, Soledad Monges et al. · Human Mutation · 2015 · 717 citations · Full text

, , +12

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

Zaïda Koeks, Catherine L. Bladen, David Salgado et al. · Journal of Neuromuscular Diseases · 2017 · 171 citations · Full text

The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Catherine L. Bladen, Karen Rafferty, Volker Straub et al. · Human Mutation · 2013 · 103 citations

, , +14

<i>LAMA2</i> gene analysis in a cohort of 26 congenital muscular dystrophy patients

Jorge Oliveira, Rosário Santos, Isabel Soares‐Silva et al. · Clinical Genetics · 2008 · 70 citations · Full text

, , +12

EMQN best practice guidelines for genetic testing in dystrophinopathies

Carl Fratter, Raymond Dalgleish, Stephanie Allen et al. · European Journal of Human Genetics · 2020 · 66 citations · Full text

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