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Ana Rita Soares

4PUBLICATIONS

31CO-AUTHORS

Medical infection agents (incl. prions)Neurology and neuromuscular diseases

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Publications (4)

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|Nov 07, 2025

PDX-1 related diabetes: a case series of two families highlighting challenges in MODY diagnosis.

Beatriz Tavares da Silva, Ana Torrão Pinheiro, Miguel Saraiva

|Dec 23, 2022

Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication.

Jorge Diogo Da Silva, Diana Gonzaga, Ana Barreta

|Nov 17, 2022

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Elizabeth E Palmer, Michael Pusch, Alessandra Picollo

|Dec 28, 2020

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in <i>MYO7A</i> and <i>NEB</i>.

Nuno Maia, Ana Rita Soares, Ana Maria Fortuna

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Frequent Collaborators

1 joint publications

Elizabeth E Palmer

1 joint publications

Michael Pusch

1 joint publications

Claire Beneteau

1 joint publications

Fowzan S Alkuraya

1 joint publications

Amy McTague

1 joint publications

Lucie Dupuis

1 joint publications

Salima El Chehadeh

1 joint publications

Siddharth Banka

1 joint publications

Jennifer M Bain

1 joint publications

Tristan T Sands

Frequent Collaborators

1 joint publications

Elizabeth E Palmer

1 joint publications

Michael Pusch

1 joint publications

Claire Beneteau

1 joint publications

Fowzan S Alkuraya

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