Rita Quental

3PUBLICATIONS
2CO-AUTHORS
Genetics not elsewhere classifiedMechanobiologyDevelopmental genetics (incl. sex determination)
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Publications (3)

|Dec 15, 2023
Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants.

Rita Rodrigues, Rita Quental, Renato Santos Silva

|Jan 18, 2023
A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature.

Rita Quental, Mafalda Sampaio, Isabel Alonso

|Jan 08, 2022
Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome.

Rita Quental, Daniel Gonçalves, Esmeralda Rodrigues

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Frequent Collaborators

1 joint publications

Rita Rodrigues

1 joint publications

Renato Santos Silva