Isabel Fineza

Recessive Ataxia With Ocular Apraxia

Clara Barbot, Paula Coutinho, Rui Chorão et al. · Archives of Neurology · 2001 · 105 citations

l-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients

Clara Barbot, Isabel Fineza, Luísa Diogo et al. · Brain and Development · 1997 · 84 citations

Urology, L-2-hydroxyglutaric Aciduria, Portuguese Pediatric Patients +4

<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

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