Joel Nuno Silva Alves Pinto


AuthID: R-000-TXA

Confirmed Publications: 8



1
TITLE: Homozygosity for a Rare FASTKD2 Variant Resulting in an Adult Onset Autosomal Recessive Mitochondrial Podocytopathy
AUTHORS: Goncalves, Francisco Pereira ; Tavares, Isabel ; Silva, Roberto; Nunes, Ana Teresa; Pereira, Luciano ; Campos, Andreia; Pinto, Joel ; Lopes, Ana; Simoes, Marta; Grazina, Manuela; Fogo, Agnes B.; Oliveira, JP ;
PUBLISHED: 2025, SOURCE: AMERICAN JOURNAL OF KIDNEY DISEASES, VOLUME: 85, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
2
TITLE: Impact of copy number variants in epilepsy plus neurodevelopment disorders  Full Text
AUTHORS: Joao, Sofia; Quental, Rita; Pinto, Joel ; Almeida, Carolina; Santos, Helena; Doria, Sofia ;
PUBLISHED: 2024, SOURCE: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, VOLUME: 117
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
3
TITLE: Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional study
AUTHORS: Beatriz Sousa; Ana Grangeia ; Joel Pinto ; Helena Santos; Sofia Dória ;
PUBLISHED: 2023, SOURCE: Porto Biomedical Journal, VOLUME: 8, ISSUE: 1
INDEXED IN: CrossRef
IN MY: ORCID | CIÊNCIAVITAE
4
TITLE: Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature
AUTHORS: Vasconcelos, Alice P.; Nogueira, Ana; Matos, Pedro; Pinto, Joel ; Pinho, Maria Joao; Fernandes, Susana; Doria, Sofia ; Carla Pinto Moura ;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 66, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
5
TITLE: Clinical Findings on Chromosome Copy Number Variations
AUTHORS: Leitao, Filipa; Grangeia, Ana ; Pinto, Joel ; Passas, Armanda; Doria, Sofia ;
PUBLISHED: 2022, SOURCE: NEUROPEDIATRICS, VOLUME: 53, ISSUE: 04
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID | CIÊNCIAVITAE
6
TITLE: Chromosome 18p11.31p11.23 Triplication  Full Text
AUTHORS: Vera Lima ; Joel Pinto ; Francisco Valente; Cristina Godinho; Sergio Castedo; Alberto Barros; Sofia Doria ;
PUBLISHED: 2019, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 12
INDEXED IN: WOS
IN MY: ORCID | CIÊNCIAVITAE
7
TITLE: Prenatal diagnosis: the clinical usefulness of array comparative genomic hybridization
AUTHORS: Marta Freitas; Joel Pinto ; Ramalho C ; Sofia Dória ;
PUBLISHED: 2018, SOURCE: Porto Biomedical Journal, VOLUME: 3, ISSUE: 2
INDEXED IN: CrossRef: 1 Unpaywall
IN MY: ORCID | CIÊNCIAVITAE
8
TITLE: Normal sperm in a 2;2 homologous male translocation carrier  Full Text
AUTHORS: Carolina Almeida ; Sofia Doria ; Maria Moreira; Joel Pinto ; Alberto Barros ;
PUBLISHED: 2012, SOURCE: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, VOLUME: 29, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID | CIÊNCIAVITAE

footer slogan

Useful Links

Get Help

© 2025 CRACS & Inesc TEC - All Rights Reserved Privacy Policy | Terms of Service