Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
21
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
22
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
23
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
24
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
25
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
26
TITLE: MYORG gene disease-causing variants in a family with primary familial brain calcification presenting with stroke-like episodes
AUTHORS: Malaquias, MJ; Martins, RC; Oliveira, J; Freixo, JP; Magalhaes, M;
PUBLISHED: 2020, SOURCE: CLINICAL GENETICS, VOLUME: 98, ISSUE: 5
AUTHORS: Malaquias, MJ; Martins, RC; Oliveira, J; Freixo, JP; Magalhaes, M;
PUBLISHED: 2020, SOURCE: CLINICAL GENETICS, VOLUME: 98, ISSUE: 5
27
TITLE: Correction to: Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1 (Neurological Sciences, (2020), 10.1007/s10072-020-04895-4) Full Text
AUTHORS: Malaquias, MJ; Pinto, CM; Sardoeira, A; Oliveira, J; Freixo, JP; Silva, AA; Abreu, P; Coelho, CR; Damásio, J; Vila Chã, N; Magalhães, M;
PUBLISHED: 2020, SOURCE: Neurological Sciences
AUTHORS: Malaquias, MJ; Pinto, CM; Sardoeira, A; Oliveira, J; Freixo, JP; Silva, AA; Abreu, P; Coelho, CR; Damásio, J; Vila Chã, N; Magalhães, M;
PUBLISHED: 2020, SOURCE: Neurological Sciences
INDEXED IN: 
Scopus
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ORCID
ORCID28
TITLE: Spasmodic cough preceding CANVAS phenotype in a family with biallelic repeat expansions in RFC1 (November, 10.1007/s10072-020-04895-4, 2020) 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: 2020, 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: 2020, SOURCE: NEUROLOGICAL SCIENCES, VOLUME: 42, ISSUE: 2
29
TITLE: alpha IIb beta 3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum Full Text
AUTHORS: Morais, S ; Oliveira, J; Lau, C ; Pereira, M; Goncalves, M; Monteiro, C; Goncalves, AR ; Matos, R; Sampaio, M; Cruz, E; Freitas, I; Santos, R; Lima, M ;
PUBLISHED: 2020, SOURCE: PLOS ONE, VOLUME: 15, ISSUE: 12
AUTHORS: Morais, S ; Oliveira, J; Lau, C ; Pereira, M; Goncalves, M; Monteiro, C; Goncalves, AR ; Matos, R; Sampaio, M; Cruz, E; Freitas, I; Santos, R; Lima, M ;
PUBLISHED: 2020, SOURCE: PLOS ONE, VOLUME: 15, ISSUE: 12
30
TITLE: Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing
AUTHORS: Bastida, JM; Morais, S; Palma Barqueros, V; Benito, R; Bermejo, N; Karkucak, M; Trapero Marugan, M; Bohdan, N; Pereira, M; Marin Quilez, A; Oliveira, J; Yucel, Y; Santos, R; Padilla, J; Janusz, K; Lau, C; Martin Izquierdo, M; Couto, E; Ruiz Pividal, JF; Vicente, V; ...More
PUBLISHED: 2019, SOURCE: ANNALS OF MEDICINE, VOLUME: 51, ISSUE: 2
AUTHORS: Bastida, JM; Morais, S; Palma Barqueros, V; Benito, R; Bermejo, N; Karkucak, M; Trapero Marugan, M; Bohdan, N; Pereira, M; Marin Quilez, A; Oliveira, J; Yucel, Y; Santos, R; Padilla, J; Janusz, K; Lau, C; Martin Izquierdo, M; Couto, E; Ruiz Pividal, JF; Vicente, V; ...More
PUBLISHED: 2019, SOURCE: ANNALS OF MEDICINE, VOLUME: 51, ISSUE: 2
