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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
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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