Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
21
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
22
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
23
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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ORCID24
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
25
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
26
TITLE: PHARC Syndrome, a Rare Genetic Disorder-Case Report
AUTHORS: Bastos, PAD; Mendonca, M; Lampreia, T; Magrico, M; Oliveira, J; Barbosa, R;
PUBLISHED: 2021, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE, VOLUME: 8, ISSUE: 6
AUTHORS: Bastos, PAD; Mendonca, M; Lampreia, T; Magrico, M; Oliveira, J; Barbosa, R;
PUBLISHED: 2021, SOURCE: MOVEMENT DISORDERS CLINICAL PRACTICE, VOLUME: 8, ISSUE: 6
27
TITLE: Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype Full Text
AUTHORS: Damásio, J; Santos, M; Samões, R; Araújo, M; Macedo, M; Sardoeira, A; Cavaco, S; Freitas, J; Barros, José ; Oliveira, J; Sequeiros, J;
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 100, ISSUE: 6
AUTHORS: Damásio, J; Santos, M; Samões, R; Araújo, M; Macedo, M; Sardoeira, A; Cavaco, S; Freitas, J; Barros, José ; Oliveira, J; Sequeiros, J;
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 100, ISSUE: 6
28
TITLE: Downbeat Nystagmus in Episodic Ataxia Type 1 Associated with a Novel KCNA1 Mutation
AUTHORS: Jorge, A; Melancia, D; Figueiredo, C; Galego, O; Oliveira, J; Martins, AI; Lemos, J;
PUBLISHED: 2021, SOURCE: MOVEMENT DISORDERS, VOLUME: 37, ISSUE: 2
AUTHORS: Jorge, A; Melancia, D; Figueiredo, C; Galego, O; Oliveira, J; Martins, AI; Lemos, J;
PUBLISHED: 2021, SOURCE: MOVEMENT DISORDERS, VOLUME: 37, ISSUE: 2
29
TITLE: Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
AUTHORS: Maria J Nabais Sá; Kerry A Miller; Mary McQuaid; Nils Koelling; Andrew O M Wilkie; Hugo Wurtele; Arjan P M de Brouwer; Jorge Oliveira;
PUBLISHED: 2021, SOURCE: Journal of Medical Genetics, VOLUME: 59, ISSUE: 8
AUTHORS: Maria J Nabais Sá; Kerry A Miller; Mary McQuaid; Nils Koelling; Andrew O M Wilkie; Hugo Wurtele; Arjan P M de Brouwer; Jorge Oliveira;
PUBLISHED: 2021, SOURCE: Journal of Medical Genetics, VOLUME: 59, ISSUE: 8
30
TITLE: Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity Full Text
AUTHORS: Cheng, HY; Capponi, S; Wakeling, E; Marchi, E; Li, Q; Zhao, MG; Weng, CH; Stefan, PG; Ahlfors, H; Kleyner, R; Rope, A; Lumaka, A; Lukusa, P; Devriendt, K; Vermeesch, J; Posey, JE; Palmer, EE; Murray, L; Leon, E; Diaz, J; ...More
PUBLISHED: 2020, SOURCE: HUMAN MUTATION, VOLUME: 41, ISSUE: 2
AUTHORS: Cheng, HY; Capponi, S; Wakeling, E; Marchi, E; Li, Q; Zhao, MG; Weng, CH; Stefan, PG; Ahlfors, H; Kleyner, R; Rope, A; Lumaka, A; Lukusa, P; Devriendt, K; Vermeesch, J; Posey, JE; Palmer, EE; Murray, L; Leon, E; Diaz, J; ...More
PUBLISHED: 2020, SOURCE: HUMAN MUTATION, VOLUME: 41, ISSUE: 2
