Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
11
TITLE: Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative
AUTHORS: Danique Beijer; Brent L Fogel; Sergi Beltran; Matt C Danzi; Andrea H Németh; Stephan Züchner; Matthis Synofzik; Astrid Adarmes; Saud Alhusaini; Mahmoud Reza Ashrafi; Luis Bataller; Enrico Bertini; Sylvia Boesch; Ronald Buijsen; Emanuel Cassou; Edwin Chan; Joana Damásio; Karina Donis; Ewelina Elert Dobkowska; Liena Elsayed; ...More
PUBLISHED: 2023, SOURCE: Cerebellum, VOLUME: 23, ISSUE: 2
AUTHORS: Danique Beijer; Brent L Fogel; Sergi Beltran; Matt C Danzi; Andrea H Németh; Stephan Züchner; Matthis Synofzik; Astrid Adarmes; Saud Alhusaini; Mahmoud Reza Ashrafi; Luis Bataller; Enrico Bertini; Sylvia Boesch; Ronald Buijsen; Emanuel Cassou; Edwin Chan; Joana Damásio; Karina Donis; Ewelina Elert Dobkowska; Liena Elsayed; ...More
PUBLISHED: 2023, SOURCE: Cerebellum, VOLUME: 23, ISSUE: 2
12
TITLE: Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome Full Text
AUTHORS: Quental, R; Goncalves, D ; Rodrigues, E; Goncalves, ES; Oliveira, J; Freixo, JP; Leao, M;
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 188, ISSUE: 4
AUTHORS: Quental, R; Goncalves, D ; Rodrigues, E; Goncalves, ES; Oliveira, J; Freixo, JP; Leao, M;
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 188, ISSUE: 4
13
TITLE: Alpha-Mannosidosis: A Novel Cause of Bilateral Thalami and Dentate Nuclei Hyperintensity
AUTHORS: Malaquias, MJ; Pinto, E; Oliveira, J; Freixo, JP; Caseiro, C; Magalhaes, M;
PUBLISHED: 2022, SOURCE: CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, VOLUME: 49, ISSUE: 5
AUTHORS: Malaquias, MJ; Pinto, E; Oliveira, J; Freixo, JP; Caseiro, C; Magalhaes, M;
PUBLISHED: 2022, SOURCE: CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES, VOLUME: 49, ISSUE: 5
14
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
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
15
TITLE: Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles Full Text
AUTHORS: Monteiro, Catarina; Goncalves, Ana ; Oliveira, Jorge; Salvado, Ramon; Tomaz, Jorge; Morais, Sara; Lima, Margarida; Santos, Rosario;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 17
AUTHORS: Monteiro, Catarina; Goncalves, Ana ; Oliveira, Jorge; Salvado, Ramon; Tomaz, Jorge; Morais, Sara; Lima, Margarida; Santos, Rosario;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 17
16
TITLE: Protocols of Investigation of Neonatal Cholestasis-A Critical Appraisal
AUTHORS: Quelhas, Patricia; Jacinto, Joana; Cerski, Carlos; Oliveira, Rui; Oliveira, Jorge; Carvalho, Elisa; dos Santos, Jorge;
PUBLISHED: 2022, SOURCE: HEALTHCARE, VOLUME: 10, ISSUE: 10
AUTHORS: Quelhas, Patricia; Jacinto, Joana; Cerski, Carlos; Oliveira, Rui; Oliveira, Jorge; Carvalho, Elisa; dos Santos, Jorge;
PUBLISHED: 2022, SOURCE: HEALTHCARE, VOLUME: 10, ISSUE: 10
17
TITLE: Characterization of a DRC1 null variant associated to primary ciliary dyskinesia and female infertility
AUTHORS: Rute Ribeiro Pereira; Vanessa Carvalho; Catarina Dias; Telma Barbosa; Jorge Oliveira; Ângela Alves; Elsa Oliveira; Rosália Sá; Mário Sousa;
PUBLISHED: 2022
AUTHORS: Rute Ribeiro Pereira; Vanessa Carvalho; Catarina Dias; Telma Barbosa; Jorge Oliveira; Ângela Alves; Elsa Oliveira; Rosália Sá; Mário Sousa;
PUBLISHED: 2022
18
TITLE: Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
AUTHORS: Maria Nabais N Sá; Kerry A Miller; Mary McQuaid; Nils Koelling; Andrew O M Wilkie; Hugo Wurtele; Arjan P M De Brouwer; Jorge Oliveira;
PUBLISHED: 2022, SOURCE: Journal of Medical Genetics, VOLUME: 59, ISSUE: 8
AUTHORS: Maria Nabais N Sá; Kerry A Miller; Mary McQuaid; Nils Koelling; Andrew O M Wilkie; Hugo Wurtele; Arjan P M De Brouwer; Jorge Oliveira;
PUBLISHED: 2022, SOURCE: Journal of Medical Genetics, VOLUME: 59, ISSUE: 8
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ORCID19
TITLE: Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1 Full Text
AUTHORS: Malaquias, MJ; Pinto, CM; Sardoeira, A; Oliveira, J; Freixo, JP; Silva, AA; Abreu, P ; Coelho, CR; Damasio, J; Vila Cha, N; Magalhaes, M;
PUBLISHED: 2021, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 42, ISSUE: 2
AUTHORS: Malaquias, MJ; Pinto, CM; Sardoeira, A; Oliveira, J; Freixo, JP; Silva, AA; Abreu, P ; Coelho, CR; Damasio, J; Vila Cha, N; Magalhaes, M;
PUBLISHED: 2021, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 42, ISSUE: 2
20
TITLE: Parkinsonism and iron deposition in two adult patients with L-2-hydroxiglutaric aciduria
AUTHORS: Malaquias, MJ; Costa, D; Pinto, E; Videira, G; Oliveira, J; Freixo, JP; Vilarinho, L; Magalhaes, M;
PUBLISHED: 2021, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 86
AUTHORS: Malaquias, MJ; Costa, D; Pinto, E; Videira, G; Oliveira, J; Freixo, JP; Vilarinho, L; Magalhaes, M;
PUBLISHED: 2021, SOURCE: PARKINSONISM & RELATED DISORDERS, VOLUME: 86
