Paula Jorge

Scopus Author ID Ciência ID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 7

Top Venues

Reproductive biology and endocrinology : RB&E

International journal of environmental research and public health

Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences , University of Porto – UMIB/ICBAS/UP

Instituto de Ciências Biomédicas Abel Salazar (PHD)

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

Affiliation History

Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences , University of Porto – UMIB/ICBAS/UP Dec 02 2013

Portugal

Principal Investigator :: Clinical & Experimental Human Genomics

Centro Hospitalar do Porto

Portugal

Clinical Laboratory Genetics Specialist :: Centro de Genética Médica Jacinto Magalhães

Escola Superior de Enfermagem de Santa Maria

Portugal

Professor of Genetics :: 1st Year Nurse degree and Post-Graduated course of Maternal Health

Instituto Nacional de Saude Dr Ricardo Jorge

Portugal

Clinical Laboratory Genetics Specialist :: Centro de Genética Médica

Instituto Genética Médica Jacinto de Magalhães

Portugal

Clinical Laboratory Genetics Specialist :: Unidade de Genética Molecular

Instituto Genética Médica Jacinto Magalhães

Portugal

Research fellow :: Unidade de Enzimologia

Education History

Instituto de Ciências Biomédicas Abel Salazar

Portugal

PHD

Publications

Bárbara Rodrigues, Vanessa Sousa, Carolyn M Yrigollen, Flora Tassone, Olatz Villate, Emily Graves Allen, Anne Glicksman, Nicole Tortora, Sarah L Nolin, António J A Nogueira, Paula Jorge
FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea. Reproductive biology and endocrinology : RB&E 22 (1) (2024)
Bárbara Rodrigues, Vanessa Sousa, Carolyn M Yrigollen, Flora Tassone, Olatz Villate, Emily Graves Allen, Anne Glicksman, Nicole Tortora, Sarah L Nolin, António J A Nogueira, Paula Jorge
FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea. Reproductive biology and endocrinology : RB&E 22 (1) (2024)
Bárbara Rodrigues, Vanessa Sousa, Carolyn M Yrigollen, Flora Tassone, Olatz Villate, Emily Graves Allen, Anne Glicksman, Nicole Tortora, Sarah L Nolin, António J A Nogueira, Paula Jorge
FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea. Reproductive biology and endocrinology : RB&E 22 (1) (2024)
Nuno Maia, Maria João Nabais Sá, Cláudia Oliveira, Flávia Santos, Célia Azevedo Soares, Catarina Prior, Nataliya Tkachenko, Rosário Santos, Arjan Pm de Brouwer, Ariana Jacome, Beatriz Porto, Paula Jorge
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder? Genes 13 (1) (2021)
Natália Oliva-Teles, Maria Chiara de Stefano, Louise Gallagher, Severin Rakic, Paula Jorge, Goran Cuturilo, Silvana Markovska-Simoska, Isabella Borg, Jeanne Wolstencroft, Zeynep Tümer, Adrian J Harwood, Yllka Kodra, David H Skuse
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature. International journal of environmental research and public health 17 (24) (2020)
Nuno Maia, Ana Rita Soares, Ana Maria Fortuna, Isabel Marques, Ana Rita Gonçalves, Rosário Santos, Manuel Melo Pires, Arjan Pm de Brouwer, Paula Jorge
Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB. Clinical case reports 8 (12) (2020)
Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Bárbara Rodrigues, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Vincenzo Cirigliano, Rosário Santos
Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies. BMC medical genetics 19 (1) (2018)

Paula Jorge.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Paula Jorge