Joel Nuno Silva Alves Pinto
AuthID: R-000-TXA
1
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
AUTHORS: Joao, Sofia; Quental, Rita; Pinto, Joel; Almeida, Carolina; Santos, Helena; Doria, Sofia ;
PUBLISHED: 2024, SOURCE: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, VOLUME: 117
2
TITLE: Homozygosity for a Rare FASTKD2 Variant Resulting in an Adult Onset Autosomal Recessive Mitochondrial Podocytopathy
AUTHORS: Francisco Pereira Gonçalves; Isabel Tavares ; Roberto Silva; Ana Teresa Nunes; Luciano Pereira; Andreia Campos; Joel Pinto; Ana Lopes; Marta Simões; Manuela Grazina; Agnes Fogo; Oliveira, JP ;
PUBLISHED: 2024, SOURCE: American Journal of Kidney Diseases
AUTHORS: Francisco Pereira Gonçalves; Isabel Tavares ; Roberto Silva; Ana Teresa Nunes; Luciano Pereira; Andreia Campos; Joel Pinto; Ana Lopes; Marta Simões; Manuela Grazina; Agnes Fogo; Oliveira, JP ;
PUBLISHED: 2024, SOURCE: American Journal of Kidney Diseases
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
AUTHORS: Beatriz Sousa; Ana Grangeia ; Joel Pinto; Helena Santos; Sofia Dória ;
PUBLISHED: 2023, SOURCE: Porto Biomedical Journal, VOLUME: 8, ISSUE: 1
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
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
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
AUTHORS: Leitao, Filipa; Grangeia, Ana ; Pinto, Joel; Passas, Armanda; Doria, Sofia ;
PUBLISHED: 2022, SOURCE: NEUROPEDIATRICS, VOLUME: 53, ISSUE: 04
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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
AUTHORS: Vera Lima ; Joel Pinto; Francisco Valente; Cristina Godinho; Sergio Castedo; Alberto Barros; Sofia Doria ;
PUBLISHED: 2019, SOURCE: MOLECULAR CYTOGENETICS, VOLUME: 12
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ORCID7
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
AUTHORS: Marta Freitas; Joel Pinto; Ramalho C ; Sofia Dória ;
PUBLISHED: 2018, SOURCE: Porto Biomedical Journal, VOLUME: 3, ISSUE: 2
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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
AUTHORS: Carolina Almeida ; Sofia Doria ; Maria Moreira; Joel Pinto; Alberto Barros ;
PUBLISHED: 2012, SOURCE: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, VOLUME: 29, ISSUE: 7
