Rita Quental

Publication Activity (10 Years)

Years Active: 2022-2023
Publications (10 Years): 6

Top Topics

Autism Spectrum Disorder

Psychometric Properties

Chronic Rhinosinusitis

Top Venues

Neuropediatrics

Ophthalmic genetics

American journal of medical genetics. Part A

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

Publications

Rita Rodrigues, Rita Quental, Renato Santos-Silva, Lídia Costa, Sérgio Estrela-Silva
Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants. Ophthalmic genetics 45 (3) (2023)
Rita Quental, Mafalda Sampaio, Isabel Alonso, Sofia Quental, Miguel Leão, Raquel Sousa
A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature. Neuropediatrics (2023)
Rita Quental, Mafalda Sampaio, Isabel Alonso, Sofia Quental, Miguel Leão, Raquel Sousa
A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature. Neuropediatrics 54 (2) (2023)
Rita Rodrigues, Rita Quental, Renato Santos-Silva, Lídia Costa, Sérgio Estrela-Silva
Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants. Ophthalmic genetics (2023)
Rita Quental, Mafalda Sampaio, Isabel Alonso, Sofia Quental, Miguel Leão, Raquel Sousa
A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature. Neuropediatrics 54 (2) (2023)
Rita Quental, Daniel Gonçalves, Esmeralda Rodrigues, Edite Serrano Gonçalves, Jorge Oliveira, João Parente Freixo, Miguel Leão
Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome. American journal of medical genetics. Part A 188 (4) (2022)