Jorge Oliveira

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

Rare Diseases, Dmd Registries, Duchenne Muscular Dystrophy +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

Gross Rearrangements, Genetic Analysis, Developmental Biology +12

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing

Jorge Oliveira, Luís Negrão, Isabel Fineza et al. · Journal of Human Genetics · 2015 · 43 citations · Full text

Mendelian Disorder, Genetic Disorder, Whole-exome Sequencing +7

Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients

M. Barbosa, António Lopes, Conceição Mota et al. · Clinical Genetics · 2011 · 42 citations

Slc3a1 Gene, Molecular Characterization, Urology +12

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy

Rosário Santos, Ana Gonçalves, Jorge Oliveira et al. · Journal of Human Genetics · 2014 · 39 citations · Full text

Mendelian Disorder, New Variants, Genetic Disorder +7