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Papers共 70 篇Author StatisticsCo-AuthorSimilar Experts

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Atypical MEGDHEL Syndrome: A Milder Phenotype with Hepatic Presentation and Failure to Thrive Associated with a Homozygous Nonsense Variant of SERAC1
Rita Marchante Pita, Raquel Amaral,Laura Vilarinho,Luísa Diogo, Isabel Gonçalves, Susana Nobre
JIMD reportsno. 3 (2025): e70017-e70017
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Diversities in Leigh Syndrome Associated with MT-ATP6 Gene Variants
Sara Martins,Maria João Santos,Marta Simões,Sandra Jacinto, Cristina Martins Halpern,Juliette Dupont,Luísa Diogo,Manuela Grazina
Endocrine, metabolic & immune disorders drug targets (2023)
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Citrullinemia and What Else
Joana Almeida,Fátima Ferreira,Nanci Baptista,Sara Ferreira,Constança Santos,Luísa Diogo
Endocrine, metabolic & immune disorders drug targets (2023)
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