Jorge Manuel Santos Marques Oliveira


AuthID: R-00H-JCF

Confirmed Publications: 9



1
TITLE: Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility  Full Text
AUTHORS: Pereira, R.; Carvalho, V.; Dias, C.; Barbosa, T.; Oliveira, J. ; Alves, A. ; Elsa Oliveira ; Sa, R. ; Sousa, M. ;
PUBLISHED: 2023, SOURCE: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, VOLUME: 40, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID
2
TITLE: The impact of time-of-day reperfusion on remote ischemic conditioning in ST-elevation myocardial infarction: a RIC-STEMI substudy  Full Text
AUTHORS: Pires, Carla Marques; Lamas, Diana; Gaspar, Antonio ; Lourenco, Andre P. ; Antunes, Nuno; Marques, Jorge ; Leite Moreira, Adelino F. ;
PUBLISHED: 2023, SOURCE: HEART AND VESSELS, VOLUME: 38, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 1
3
TITLE: Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD)  Full Text
AUTHORS: Goncalves, A ; Fortuna, A; Ariyurek, Y; Oliveira, ME ; Nadais, G; Pinheiro, J; den Dunnen, JT; Sousa, M ; Oliveira, J ; Santos, R;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
4
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
5
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
6
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
7
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
8
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: 20
IN MY: ORCID
9
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

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