Mário Manuel Silva Leite Sousa


AuthID: R-000-CYN

Confirmed Publications: 347



11
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: WOS
12
13
TITLE: Preimplantation genetic testing for familial amyloid polyneuropathy  Full Text
AUTHORS: Sousa, Mario ;
PUBLISHED: 2022, SOURCE: REPRODUCTIVE HEALTH, VOLUME: 19, ISSUE: 1
INDEXED IN: Scopus WOS
14
TITLE: The Role of ROS as a Double-Edged Sword in (In)Fertility: The Impact of Cancer Treatment  Full Text
AUTHORS: Mendes, Sara; Sa, Rosalia ; Magalhaes, Manuel; Marques, Franklim; Sousa, Mario ; Silva, Elisabete;
PUBLISHED: 2022, SOURCE: CANCERS, VOLUME: 14, ISSUE: 6
INDEXED IN: Scopus WOS
15
TITLE: Characterization of alpha-MSH browning effect in diverse mice white adipose tissue depots
AUTHORS: Salazar, MJ; Rodrigues, AR; Sousa, M ; Magalhaes, J; Neves, D ; Almeida, H ; Gouveia, AM ;
PUBLISHED: 2021, SOURCE: JOURNAL OF MOLECULAR ENDOCRINOLOGY, VOLUME: 66, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 1
16
TITLE: Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD)  Full Text
AUTHORS: Ana Gonçalves; Ana Fortuna; Yavuz Ariyurek; Márcia E Oliveira; Goreti Nadais; Jorge Pinheiro; Johan T den Dunnen; Mário Sousa ; Jorge Oliveira; Rosário Santos;
PUBLISHED: 2021, SOURCE: International Journal of Molecular Sciences, VOLUME: 23, ISSUE: 1
INDEXED IN: CrossRef
IN MY: ORCID
17
TITLE: New evidences of ubiquitin-proteasome system activity in human sperm  Full Text
AUTHORS: Silva, JV ; Santiago, J; Sousa, M ; Oliveira, PF ; Fardilha, M;
PUBLISHED: 2021, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH, VOLUME: 1868, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
18
TITLE: Activation of mTOR pathway during short-term preservation increases spermatozoa glycolytic activity  Full Text
AUTHORS: Carvalho, BG; Bernardino, RL ; Sousa, M ; Barros, A; Oliveira, PF ; Carvalho, RA; Alves, MG ;
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, VOLUME: 50
INDEXED IN: WOS
19
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: WOS CrossRef: 37
IN MY: ORCID
20
TITLE: Discordance between human sperm quality and telomere length following differential gradient separation/swim-up  Full Text
AUTHORS: Lopes, AC; Oliveira, PF ; Pinto, S; Almeida, C ; Pinho, MJ; Sa, R ; Rocha, Eduardo ; Barros, A ; Sousa, M ;
PUBLISHED: 2020, SOURCE: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, VOLUME: 37, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 11
IN MY: ORCID
Page 2 of 35. Total results: 347.

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