Ana Rita Gonçalves (Ana Gonçalves)

Ciência ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2022
Publications (10 Years): 4

Top Topics

Intellectual Disability

Mitochondrial Dna

Top Venues

Clinical case reports

International journal of molecular sciences

Universidade de Aveiro (MSC)

This page only lists publications with an associated author ORCID identifier.

Education History

Universidade de Aveiro

Portugal

MSC

Publications

Bárbara Rodrigues, Ana Rita Gonçalves, Vanessa Sousa, Nuno Maia, Isabel Marques, Emídio Vale-Fernandes, Rosário Santos, António J A Nogueira, Paula Jorge
Use of the FMR1 Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis. Genes 13 (3) (2022)
Catarina Monteiro, Ana Rita Gonçalves, Jorge Oliveira, Ramon Salvado, Jorge Tomaz, Sara Morais, Margarida Lima, Rosário Santos
Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles. International journal of molecular sciences 23 (17) (2022)
Nuno Maia, Ana Rita Soares, Ana Maria Fortuna, Isabel Marques, Ana Rita Gonçalves, Rosário Santos, Manuel Melo Pires, Arjan Pm de Brouwer, Paula Jorge
Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB. Clinical case reports 8 (12) (2020)
Sara Morais, Jorge Oliveira, Catarina Lau, Mónica Pereira, Marta Gonçalves, Catarina Monteiro, Ana Rita Gonçalves, Rui Matos, Marco Sampaio, Eugénia Cruz, Inês Freitas, Rosário Santos, Margarida Lima
αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum. PloS one 15 (12) (2020)