Jorge Manuel Santos Marques Oliveira


AuthID: R-00H-JCF

Confirmed Publications: 35



11
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
INDEXED IN: CrossRef: 11
IN MY: ORCID
12
TITLE: CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2  Full Text
AUTHORS: Morais, Sara; Pereira, Monica; Lau, Catarina ; Goncalves, Ana ; Monteiro, Catarina; Goncalves, Marta; Oliveira, Jorge ; Moreira, Lurdes; Cruz, Eugenia; Santos, Rosario; Lima, Margarida ;
PUBLISHED: 2021, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 22, ISSUE: 22
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
13
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
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID
14
TITLE: Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics
AUTHORS: Pereira, R ; Oliveira, J ; Sousa, M ;
PUBLISHED: 2020, SOURCE: JOURNAL OF CLINICAL MEDICINE, VOLUME: 9, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 37
IN MY: ORCID
15
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
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
16
TITLE: Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough  Full Text
AUTHORS: Pereira, R ; Barbosa, T; Alves, A ; Santos, R; Oliveira, J ; Sousa, M ;
PUBLISHED: 2020, SOURCE: ADVANCES IN MEDICAL SCIENCES, VOLUME: 65, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
17
TITLE: Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction  Full Text
AUTHORS: Pereira, R ; Oliveira, ME ; Santos, R; Elsa Oliveira ; Barbosa, T; Santos, T; Goncalves, P; Ferraz, L; Pinto, S; Barros, A ; Oliveira, J ; Sousa, M ;
PUBLISHED: 2019, SOURCE: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, VOLUME: 36, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 23
IN MY: ORCID
18
TITLE: Clinical and Genetic Analysis of Children with Kartagener Syndrome
AUTHORS: Pereira, R ; Barbosa, T; Gales, L ; Elsa Oliveira ; Santos, R; Oliveira, J ; Sousa, M ;
PUBLISHED: 2019, SOURCE: CELLS, VOLUME: 8, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 25
IN MY: ORCID
19
TITLE: Novel homozygous pathogenic variants in CCDC103 identified in patients with situs-inversus-totalis and absence of axoneme dynein arms: further insights on reproductive function
AUTHORS: Pereira, R ; Oliveira, J ; Barbosa, T; Oliveira, M; Santos, R; Santos, T; Goncalves, P; Ferraz, L; Barros, A; Sousa, M;
PUBLISHED: 2019, SOURCE: 35th Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology (ESHRE) in HUMAN REPRODUCTION, VOLUME: 34
INDEXED IN: WOS
20
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