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  1. 1
    Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in <i>RBM8A</i> That Expands the Spectrum of Null Alleles

    Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in <i>RBM8A</i> That Expands the Spectrum of Null Alleles by Catarina Monteiro, Ana Gonçalves, Jorge Oliveira, Ramon Salvado, Jorge Tomaz, Sara Morais, Margarida Lima, Rosário Santos

    Published 2022-08-01
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  2. 2
    Haemophilia A: health and economic burden of a rare disease in Portugal

    Haemophilia A: health and economic burden of a rare disease in Portugal by Andreia Café, Manuela Carvalho, Miguel Crato, Miguel Faria, Paula Kjollerstrom, Cristina Oliveira, Patrícia R. Pinto, Ramón Salvado, Alexandra Aires dos Santos, Catarina Silva

    Published 2019-09-01
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