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Paula Jorge

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Auxiliary Professor

University of Porto

Portugal

Research Interests

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Professors in Portugal Professors in Biostatistics Biostatistics professors in Portugal

Recent Grants

Grant: Close

Laboratory for Integrative and Translational Research in Population Health

Open Date: 2021-01-01

Close Date: 2025-12-31

Grant: Close

Investigar o impacto da epigenética associada ao cromossoma X na infertilidade feminina

Open Date: 2021-01-01

Close Date:

Grant: Close

Unidade Multidisciplinar de Investigação Biomédica - UMIB Unit for Multidisciplinary Research in Biomedicine

Open Date: 2020-01-01

Close Date: 2023-01-01

Grant: Close

Comprehensive genomic studies decipher the classical Fragile-X phenotype in a female patient

Open Date: 2016-01-01

Close Date: 2016-01-01

Grant: Close

MOLECULAR CAUSES OF INTELLECTUAL DISABILITY AND DEVELOPMENTAL DISORDERS

Open Date: 2015-12-01

Close Date:

Articles (13)

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2026

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2024

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2023

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2023

Collaborators (18)

Nuno Maia

Invited associated professor

Instituto Politécnico de Leiria

PORTUGAL

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Yves Moreau

Full Professor

KU Leuven

BELGIUM

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Ana Catarina Sousa

Professor

Universidade de Lisboa Instituto Superior Técnico

PORTUGAL

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António Nogueira

Full Professor

Universidade de Aveiro

PORTUGAL

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Emily Allen

Associate Professor

Emory University

UNITED STATES

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J.h.l.m van Bokhoven

Professor

Radboud University Medical Center

NETHERLANDS

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Cláudia Oliveira

Técnica Superior

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar

PORTUGAL

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Natália Oliva Teles

Colaborator

Universidade do Porto Faculdade de Medicina

PORTUGAL

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Emídio Vale-Fernandes

Professor Auxiliar Convidado

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar

PORTUGAL

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Adrian Harwood

Profressor

Cardiff University

UNITED KINGDOM

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Tiago Fernandes

Auxiliar Professor

Universidade Aberta

PORTUGAL

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Arjan P. M. de Brouwer

NETHERLANDS

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Mari Mori

Associate Professor

Emory University

UNITED STATES

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Ann Swillen

Professor

KU Leuven

BELGIUM

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Carolyn Yrigollen

Assistant Professional Researcher

university of california davis medical center

UNITED STATES

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Kwong Wai Choy

Professor

The Chinese University of Hong Kong (CUHK)

HONG KONG

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Zirui Dong

Assistant Lab Director (Bioinformatics)

The Chinese University of Hong Kong (CUHK)

HONG KONG

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Solange Costa

Researcher (Principal Researcher)

National Institute of Health Dr. Ricardo Jorge

PORTUGAL

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Paula Jorge

Research Interests

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Recent Grants

Articles (13)

Global recommendations for the use of diagnostic genomic sequencing in the prenatal setting on behalf of the ESHG and ISPD

The role of satellite DNA-enriched heterochromatic variants in reproductive disorders: Insights from standardized cytogenetic analysis

FRAXE-associated intellectual disability: clinical and molecular insights into an underdiagnosed condition

FMR1 Allelic Complexity and IVF Fertilization Success: Limitations and Future Perspectives

Red Blood Cell Antioxidant State in Fanconi Anemia: The Highlighted Roles of Pi-Class Glutathione S-Transferase and Glutathione Peroxidase

Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating

MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysis

Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system

FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea

Cumulus cell DNA damage linked to fertilization success in females with an ovulatory dysfunction phenotype

Analytical data as a predictor of duration of hospital admission in human parechovirus infections

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

Degradable copper(<scp>ii</scp>)-doped starch-based biopolymeric films with antibacterial activity

Collaborators (18)

Nuno Maia

Yves Moreau

Ana Catarina Sousa

António Nogueira

Emily Allen

J.h.l.m van Bokhoven

Cláudia Oliveira

Natália Oliva Teles

Emídio Vale-Fernandes

Adrian Harwood

Tiago Fernandes

Arjan P. M. de Brouwer

Mari Mori

Ann Swillen

Carolyn Yrigollen

Kwong Wai Choy

Zirui Dong

Solange Costa

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