Ana Rita Gonçalves
4PUBLICATIONS
14CO-AUTHORS
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Publications (4)
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|Sep 09, 2022
Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles.Catarina Monteiro, Ana Gonçalves, Jorge Oliveira
|Mar 25, 2022
Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis.Bárbara Rodrigues, Ana Gonçalves, Vanessa Sousa
|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
|Dec 04, 2020
αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum.Sara Morais, Jorge Oliveira, Catarina Lau
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Frequent Collaborators
2 joint publications
Nuno Maia
2 joint publications
Isabel Marques
2 joint publications
Rosário Santos
2 joint publications
Catarina Monteiro
1 joint publications
Ana Rita Soares
1 joint publications
Ana Maria Fortuna
1 joint publications
Manuel Melo Pires
1 joint publications
Arjan P M de Brouwer
1 joint publications
Paula Jorge
1 joint publications
Bárbara Rodrigues
