Concepedia
Statistics
Publications
42
Citations
2.1K
H-Index
23
Active since
1993
Affiliations
Centro de Genética Clínica(Current)
Universidade do Porto
Centro Hospitalar do Porto
Rede de Química e Tecnologia
Leiden University Medical Center
Rosário Santos is an author at Centro de Genética Clínica specializing in genetics, medical genetics, and molecular genetics.
Publications per year
1993–2023
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 · 744 citations · Full text
Life Sciences, Genetics, Molecular Genetics +15
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 · 182 citations · Full text
Medicine, Neurology, Clinical Epidemiology +4
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 · 108 citations
Medicine, Neurology, Good Clinical Practice +13
<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 · 74 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
EMQN best practice guidelines for genetic testing in dystrophinopathies
Carl Fratter, Raymond Dalgleish, Stephanie Allen et al. · European Journal of Human Genetics · 2020 · 71 citations · Full text
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