Paula Maria Vieira Jorge
AuthID: R-002-5HV
1
TITLE: Quality of life in adolescents with narcolepsy type 1-a transversal study in a tertiary hospital Full Text
AUTHORS: Salazar, Luis; Vieira, Paula Manuel; Cascais, Ines; Figueiroa, Sonia; Rios, Marta;
PUBLISHED: 2024, SOURCE: SLEEP MEDICINE, VOLUME: 113
AUTHORS: Salazar, Luis; Vieira, Paula Manuel; Cascais, Ines; Figueiroa, Sonia; Rios, Marta;
PUBLISHED: 2024, SOURCE: SLEEP MEDICINE, VOLUME: 113
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TITLE: Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system
AUTHORS: Pires, Silvia; Jorge, Paula; Liehr, Thomas; Oliva Teles, Natalia;
PUBLISHED: 2024, SOURCE: HUMAN GENOME VARIATION, VOLUME: 11, ISSUE: 1
AUTHORS: Pires, Silvia; Jorge, Paula; Liehr, Thomas; Oliva Teles, Natalia;
PUBLISHED: 2024, SOURCE: HUMAN GENOME VARIATION, VOLUME: 11, ISSUE: 1
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TITLE: Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder
AUTHORS: Maia, N; Potelle, S; Yildirim, H; Duvet, S; Akula, SK; Schulz, C; Wiame, E; Gheldof, A; O'Kane, K; Lai, A; Sermon, K; Proisy, M; Loget, P; Attie Bitach, T; Quelin, C; Fortuna, AM; Soares, AR; de Brouwer, APM; Van Schaftingen, E; Nassogne, MC; ...More
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 109, ISSUE: 2
AUTHORS: Maia, N; Potelle, S; Yildirim, H; Duvet, S; Akula, SK; Schulz, C; Wiame, E; Gheldof, A; O'Kane, K; Lai, A; Sermon, K; Proisy, M; Loget, P; Attie Bitach, T; Quelin, C; Fortuna, AM; Soares, AR; de Brouwer, APM; Van Schaftingen, E; Nassogne, MC; ...More
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 109, ISSUE: 2
4
TITLE: Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions
AUTHORS: Silva, C; Maia, N; Santos, F; Rodrigues, B; Marques, I; Santos, R; Jorge, P;
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1
AUTHORS: Silva, C; Maia, N; Santos, F; Rodrigues, B; Marques, I; Santos, R; Jorge, P;
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1
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TITLE: Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB
AUTHORS: Maia, N; Soares, AR ; Fortuna, AM; Marques, I; Goncalves, A ; Santos, R; Pires, MM ; de Brouwer, APM; Jorge, P;
PUBLISHED: 2020, SOURCE: CLINICAL CASE REPORTS, VOLUME: 8, ISSUE: 12
AUTHORS: Maia, N; Soares, AR ; Fortuna, AM; Marques, I; Goncalves, A ; Santos, R; Pires, MM ; de Brouwer, APM; Jorge, P;
PUBLISHED: 2020, SOURCE: CLINICAL CASE REPORTS, VOLUME: 8, ISSUE: 12
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TITLE: Two Compound Heterozygous Variants inSNX14Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20 Full Text
AUTHORS: Maia, N; Soares, G; Silva, C; Marques, I; Rodrigues, B; Santos, R; Melo Pires, M; de Brouwer, AP; Temudo, T; Jorge, P;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
AUTHORS: Maia, N; Soares, G; Silva, C; Marques, I; Rodrigues, B; Santos, R; Melo Pires, M; de Brouwer, AP; Temudo, T; Jorge, P;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
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TITLE: Development and Validation of a Mathematical Model to Predict the Complexity of FMR1 Allele Combinations Full Text
AUTHORS: Rodrigues, B; Vale Fernandes, E; Maia, N; Santos, F; Marques, I; Santos, R; Nogueira, AJA; Jorge, P;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
AUTHORS: Rodrigues, B; Vale Fernandes, E; Maia, N; Santos, F; Marques, I; Santos, R; Nogueira, AJA; Jorge, P;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
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TITLE: Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature
AUTHORS: 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 Skuse;
PUBLISHED: 2020, SOURCE: International Journal of Environmental Research and Public Health, VOLUME: 17, ISSUE: 24
AUTHORS: 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 Skuse;
PUBLISHED: 2020, SOURCE: International Journal of Environmental Research and Public Health, VOLUME: 17, ISSUE: 24
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TITLE: Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants – A diagnostic challenge
AUTHORS: Salgado, P; Carvalho, R; Brandão, AF; Jorge, P; Ramos, C; Dias, D; Alonso, I; Magalhães, M;
PUBLISHED: 2019, SOURCE: eNeurologicalSci, VOLUME: 14
AUTHORS: Salgado, P; Carvalho, R; Brandão, AF; Jorge, P; Ramos, C; Dias, D; Alonso, I; Magalhães, M;
PUBLISHED: 2019, SOURCE: eNeurologicalSci, VOLUME: 14
