Ana Rita Soares
4PUBLICATIONS
31CO-AUTHORS
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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 MYO7A and NEB.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
