A novel disease-causing variant associated with a milder phenotype of AARS2-related leukodystrophy — A case report by Joana Fernandes, João Moura, João Tarrio, Jorge Oliveira, Ana Lopes, João Parente Freixo, Gonçalo Videira

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X-linked hypophosphatemic rickets: a new mutation by Patrícia Maio, Lia Mano, Sara Rocha, Rute Baeta Baptista, Telma Francisco, Helena Sousa, João Parente Freixo, Margarida Abranches

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Analysis of Regions of Homozygosity: Revisited Through New Bioinformatic Approaches by Susana Valente, Mariana Ribeiro, Jennifer Schnur, Filipe Alves, Nuno Moniz, Dominik Seelow, João Parente Freixo, Paulo Filipe Silva, Jorge Oliveira

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Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment by Diana Simão Raimundo, Ana Isabel Cordeiro, João Parente Freixo, Marta Valente Pinto, Marta Valente Pinto, Conceição Neves, João Farela Neves, João Farela Neves, João Farela Neves

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Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases by Ana Costa e Castro, Raquel Maia, Sara Batalha, João Parente Freixo, Catarina Martins, Catarina Martins, Conceição Neves, Ana Isabel Cordeiro, João Farela Neves, João Farela Neves, João Farela Neves

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