Concepedia

Hospital de Dona Estefânia

HD

Statistics

Publications

1.6K

Citations

40.3K

Authors

147

Location

Lisbon, Portugal

Also known as HDE

Hospital de Dona Estefânia is a healthcare institution in Lisbon, Portugal known for life sciences, medicine, and genetics.

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Publications

1.6K

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson et al. · Nature Genetics · 2014 · 591 citations · Full text

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AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34

Anil K. Agarwal, Elif Arioǧlu, Salomé de Almeida et al. · Nature Genetics · 2002 · 518 citations

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Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

Sylvain Hanein, Isabelle Perrault, S. Gerber et al. · Human Mutation · 2004 · 349 citations · Full text

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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Beverley Anderson, Paul R. Kasher, Joséphine Mayer et al. · Nature Genetics · 2012 · 291 citations · Full text

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Identification of novel genetic causes of Rett syndrome-<i>like</i> phenotypes

Fátima Lopes, Mafalda Barbosa, Adam Ameur et al. · Journal of Medical Genetics · 2016 · 194 citations · Full text

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1–5 of 1.6K

Authors

147

  1. DV
    Daniel Virella

    Hospital de Dona Estefânia, Portugal

    178 publications · 1.6K citations

    22

    h-index

  2. JP
    José Pedro Vieira

    Hospital de Dona Estefânia, Portugal

    93 publications · 2.3K citations

    22

    h-index

  3. PP
    Paula Pinto

    Hospital de Dona Estefânia, Portugal

    163 publications · 1.1K citations

    20

    h-index

  4. CL
    Catarina Limbert

    Hospital de Dona Estefânia, Portugal

    105 publications · 1.3K citations

    20

    h-index

  5. JF
    João Farela Neves

    Hospital de Dona Estefânia, Portugal

    74 publications · 6.9K citations

    19

    h-index

1–5 of 147