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Nuno Maia

University of Porto

20

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18

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Postpartum Ankle Pain: A Suspected Complex Regional Pain Syndrome or a Rare Cause of Septic Arthritis?

2021 Cureus
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Development and Validation of a Mathematical Model to Predict the Complexity of FMR1 Allele Combinations

2020 Frontiers in Genetics
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Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB

2020 Clinical Case Reports
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Theistic modal realism and causal modal collapse

2020 Religious Studies
- Nuno Maia
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Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20

2020 Frontiers in Genetics
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Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant

2019 Amyloid
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Molecular profile of Myotonic Dystrophy type 1 (DM1) in portuguese families

2015 Nascer e Crescer
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Next generation fragile-X testing: getting away from southern blots

2014 Nascer e Crescer
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Advances in fragile-x testing

2014
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Investigação das causas genéticas de doenças primárias do músculo: a experiência da unidade de genética molecular do CGMJM

2013
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