Showing 1 - 2 results of 2 for search 'Laura Vilarinho', query time: 0.01s Refine Results
  1. 1
    Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of SERAC1

    Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of SERAC1 by Rita Marchante Pita, Raquel Amaral, Laura Vilarinho, Luísa Diogo, Isabel Gonçalves, Susana Nobre

    Published 2025-05-01
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  2. 2
    Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population

    Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population by Diogo Rodrigues, Ana Marcão, Lurdes Lopes, Ana Ventura, Teresa Faria, Anabela Ferrão, Carolina Gonçalves, Paula Kjöllerström, Ana Castro, Sofia Fraga, Marta Almeida, Tabita Maia, João Gomes, Ana Lachado, Isabel Guerra, Fátima Ferreira, Fernanda Trigo, Celeste Bento, Laura Vilarinho

    Published 2025-01-01
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