Alice Porto Vasconcelos

3PUBLICATIONS
3CO-AUTHORS
NeurogeneticsMedical biochemistry - amino acids and metabolitesOrthopaedics
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Publications (3)

|Sep 07, 2026
The Importance of Familial Co-segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease.

|Nov 27, 2024
Safety and Tolerability of a Shorter Agalsidase Beta Infusion Time in Patients with Classic or Later-Onset Fabry Disease.

Dominique P Germain, Alice Porto Vasconcelos, Lien Tran Thi Phuong

|Oct 03, 2024
DYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.

Alice Porto Vasconcelos, Sofia Quental, João Parente Freixo

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Frequent Collaborators

1 joint publications

Dominique P Germain

1 joint publications

Susana Fernandes

1 joint publications

João Paulo Oliveira