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Intellectual disability genomics: current state, pitfalls and future challenges

BMC genomics, 2021-12, Vol.22 (1), p.909-909, Article 909

2021

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Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?

Genes, 2021-12, Vol.13 (1), p.78

2021

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Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

Molecular genetics & genomic medicine, 2015-05, Vol.3 (3), p.203-214

2015

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Genomic imbalances defining novel intellectual disability associated loci

Orphanet journal of rare diseases, 2019-07, Vol.14 (1), p.164-164, Article 164

2019

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Deletion of the 5′exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome

Journal of medical genetics, 2013-11, Vol.50 (11), p.745-753

2013

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Mais do que uma insuficiência de crescimento: relato de caso

Revista portuguesa de medicina geral e familiar, 2017-02, Vol.33 (1), p.63-69

2017

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Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels

JIMD Reports, Volume 26, 2016-01, Vol.26, p.53-60

2016

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Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

Journal of human genetics, 2023-08, Vol.68 (8), p.577-577

2023

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E quando o outro médico errou? A arte de comunicar com o doente

Revista portuguesa de medicina geral e familiar, 2014-02, Vol.30 (1), p.56-58

2014

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E quando o outro médico errou? A arte de comunicar com o doente

Revista portuguesa de medicina geral e familiar, 2014-01, Vol.30 (1)

2014

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Stress Among Portuguese Medical Students: A National Cross-Sectional Study

Oura, Maria João Sá Trovão

2020

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Mais do que uma insuficiência de crescimento: relato de caso

Revista portuguesa de medicina geral e familiar, 2017-01, Vol.33 (1), p.63-69

2017

Volltextzugriff (PDF)

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

Journal of human genetics, 2023-08, Vol.68 (8), p.543-550

2023

Volltextzugriff (PDF)

Cardiomiopatia dilatada: qual a etiologia?

Nascer e crescer, 2016-12, Vol.25 (suppl 2), p.25-26

2016

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Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome

Journal of medical genetics, 2013-11, Vol.50 (11), p.745-753

2013

Volltextzugriff (PDF)

Phenotypic spectrum of DCX pathogenic mutations in females: from childhood to adulthood clinical onset

Nascer e crescer, 2015-02, Vol.24 (suppl 1), p.23-24

2015

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Síndrome de deleção 22q11.2: diagnóstico em idade adulta - experiência do Centro de Genética Médica Doutor Jacinto Magalhães - CHP

Nascer e crescer, 2015-02, Vol.24 (suppl 1), p.14-14

2015

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Avaliação e Quantificação do Transporte Longilitoral no Arco Caparica-Espichel

da Silva Banha, Maria João Sá Oliveira

2018

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Exporting a Model of Integrated Disease Management: A Cross-Case Study Analysis and Application to Associação Protectora dos Diabéticos de Portugal

de Azevedo, Maria João Sá

2015

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Alport syndrome: Clinical and molecular study of Portuguese families

Sá, Maria João Nabais

2013

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O Bem-Estar Subjetivo na Adolescência: Contributo das Variáveis Sociodemográficas, Personalidade e Espiritualidade

Azevedo, Maria João Sá

2013

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Análise e Melhoria de um Processo de Cargas

Sá, Maria João Leite

2013

Volltextzugriff (PDF)

MX-linked centronuclear myopathy: from clinical diagnosis to genetic counseling

Nascer e crescer, 2014-03, Vol.23 (suppl 1), p.18-18

2014

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Da Vontade de Crescer, Projecto de Expansão da Casa de Docim

de Sá Couto, João Maria Ferreira de Melo

2019

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Avaliação de um edifício Escolar Segundo o Sistema LiderA

e Sá, Maria João Vidal

2010

Volltextzugriff (PDF)

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Intellectual disability genomics: current state, pitfalls and future challenges

Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

Genomic imbalances defining novel intellectual disability associated loci

Deletion of the 5′exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome

Mais do que uma insuficiência de crescimento: relato de caso

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels

Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

E quando o outro médico errou? A arte de comunicar com o doente

E quando o outro médico errou? A arte de comunicar com o doente

Stress Among Portuguese Medical Students: A National Cross-Sectional Study

Mais do que uma insuficiência de crescimento: relato de caso

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

Cardiomiopatia dilatada: qual a etiologia?

Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome

Phenotypic spectrum of DCX pathogenic mutations in females: from childhood to adulthood clinical onset

Síndrome de deleção 22q11.2: diagnóstico em idade adulta - experiência do Centro de Genética Médica Doutor Jacinto Magalhães - CHP

Avaliação e Quantificação do Transporte Longilitoral no Arco Caparica-Espichel

Exporting a Model of Integrated Disease Management: A Cross-Case Study Analysis and Application to Associação Protectora dos Diabéticos de Portugal

Alport syndrome: Clinical and molecular study of Portuguese families

O Bem-Estar Subjetivo na Adolescência: Contributo das Variáveis Sociodemográficas, Personalidade e Espiritualidade

Análise e Melhoria de um Processo de Cargas

MX-linked centronuclear myopathy: from clinical diagnosis to genetic counseling

Da Vontade de Crescer, Projecto de Expansão da Casa de Docim

Avaliação de um edifício Escolar Segundo o Sistema LiderA

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