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TITLE: Genetic variation spectrum of ATP7B in a cohort of 113 patients with Wilson disease
AUTHORS: Freixo, Joao Parente; Lopes, Ana; Bastos Ferreira, Rita; Antunes, Henedina; Silva, Ermelinda Santos; Sequeiros, Jorge; Magalhaes, Marina; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1

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WOS

TITLE: Healthcare professionals' views about responsibility in the sharing of genetic information to patients' relatives
AUTHORS: Mendes, Alvaro; Paneque, Milena ; Sequeiros, Jorge;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1

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WOS

TITLE: PRKN analysis in Parkinson disease: two decades experience
AUTHORS: Brandao, Ana Filipa; Morais, Sara; Bastos Ferreira, Rita; Sousa, Susana; Magalhaes, Marina; Lima, Antonio Bastos; Grilo Goncalves, Jose Alves; Guedes, Leonor Correia; Mendes, Alexandre; Velon, Ana Graca; Bueno, Carlos Sanchez; Proenca, Joao; Manuela Costa, Maria Manuela; Oliveira, Ana; Ferreira, Joaquim; Blanco, Mario Romero; Araujo, Rui; Lampreia, Tania; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge; ...More
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1

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TITLE: Modelling SCA11 in cells using CRISPR/Cas9: functional validation of a new TTBK2 missense variant
AUTHORS: Felicio, Daniela; Sequeiros, Jorge; Santos, Mariana;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1

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WOS

TITLE: Childhood-Onset Writer's Cramp in Hereditary Spastic Paraplegia Type 15
AUTHORS: Moura, Joao; Sardoeira, Ana; Oliveira, Jorge; Mendes, Alexandre; Barros, José ; Sequeiros, Jorge; Barbot, Clara; Damasio, Joana;
PUBLISHED: 2022, SOURCE: CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, VOLUME: 50, ISSUE: 3

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Scopus

WOS

TITLE: GENETIC VARIATION SPECTRUM OF ATP7B IN A COHORT OF 113 PATIENTS WITH WILSON DISEASE Full Text
AUTHORS: Freixo, Joao Parente; Lopes, Ana; Bastos Ferreira, Rita; Silva, Ermelinda Santos; Antunes, Henedina; Sequeiros, Jorge; Magalhaes, Marina; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: 25th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 101, ISSUE: 30

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TITLE: INCIDENTAL CARRIER DETECTION OF 639 VARIANTS IN PATIENTS TESTED FOR DIAGNOSTIC PURPOSES: ADDED VALUE FOR GENETIC COUNSELLING AND A GLIMPSE ABOUT RECESSIVE DISEASES IN PORTUGAL Full Text
AUTHORS: Lopes, Fatima; Alves, Filipe; Silva, Paulo; Sousa, Susana; Morais, Sara; Sa, Joana; Brandao, Ana Filipa; Lopes, Ana; Bastos Ferreira, Rita; Lopes, Alexandra; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30

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WOS

TITLE: PARKINSON DISEASE: EXPERIENCE OF TWO DECADES IN THE ANALYSIS OF PRKN GENE Full Text
AUTHORS: Brandao, Ana Filipa; Morais, Sara; Bastos Ferreira, Rita; Sousa, Susana; Magalhaes, Marina; Lima, Bastos; Grilo Goncalves, Jose Alves; Guedes, Leonor Correia; Mendes, Alexandre; Velon, Ana Graca; Bueno, Carlos Sanchez; Proenca, Joao; Costa, Maria Manuela; Oliveira, Ana; Ferreira, Joaquim; Blanco, Mario Romero; Araujo, Rui; Lampreia, Tania; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30

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WOS

TITLE: EPIGENETIC ANALYSIS OF THE CGRP PATHWAY GENES INVOLVED IN MIGRAINE Full Text
AUTHORS: Carvalho, Estefania; Dias, Andreia; Sousa, Alda; Sequeiros, Jorge; Lopes, Alexandra; Martins, Sandra; Pinto, Nadia ; Lemos, Carolina; Alves Ferreira, Miguel;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30

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WOS

TITLE: DISCLOSURE OF GENETIC INFORMATION TO PATIENT`S RELATIVES: HEALTHCARE PROFESSIONALS' PERSPECTIVE ON PERCEIVED RESPONSIBILITIES AND CONFIDENTIALITY OF GENETIC INFORMATION Full Text
AUTHORS: Mendes, Alvaro; Paneque, Milena ; Sequeiros, Jorge;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30

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WOS

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