Maria Lúcia Barbosa Maia dos Santos

Statistics

Publications

Citations

134

H-Index

Active since

2005

Affiliations

Amsterdam UMC Location Vrije Universiteit Amsterdam(Current)

Hospital de Santo António

Centro de Genética Clínica

Hospital Maria Pia

Maria Lúcia Barbosa Maia dos Santos is an author at Amsterdam UMC Location Vrije Universiteit Amsterdam specializing in medical genetics, genetic disorders, and genetics.

ORCID

Publications per year

2005–2008

Publications

Refining the phenotype of <i>α‐1a Tubulin </i>(<i>TUBA1A</i>) mutation in patients with classical lissencephaly

DJ Morris‐Rosendahl, Juliane Najm, A.M.A. Lachmeijer et al. · Clinical Genetics · 2008 · 93 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Neurology +17

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