Concepedia

Isabel Fineza

IF

Statistics

Publications

16

Citations

569

H-Index

13

Active since

1996

Affiliations

Hospitais da Universidade de Coimbra(Current)

Centro de Genética Clínica

Universidade do Porto

Centro Hospitalar do Porto

Hospital de Santo António

Isabel Fineza is an author at Hospitais da Universidade de Coimbra specializing in life sciences, genetic disorders, and genetics.

Publications per year

1996–2022

16

Publications

16

Recessive Ataxia With Ocular Apraxia

Clara Barbot, Paula Coutinho, Rui Chorão et al. · Archives of Neurology · 2001 · 106 citations

, , +12

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 · 85 citations

, , +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 · 74 citations · Full text

, , +16

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 · 45 citations

, , +15

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin

Laura Vilarinho, Maria Luı́s Cardoso, Paulo Gaspar et al. · Human Mutation · 2005 · 41 citations · Full text

, , +17

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