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TITLE: Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants  Full Text
AUTHORS: Encarnacao, M; Coutinho, MF; Silva, L; Ribeiro, D; Ouesleti, S; Campos, T; Santos, H; Martins, E ; Cardoso, MT; Vilarinho, L; Alves, S;
PUBLISHED: 2020, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 21, ISSUE: 17
INDEXED IN: Scopus WOS
24
TITLE: NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient
AUTHORS: Marisa Encarnacao; Maria Francisca Coutinho; Soo Min Cho; Maria Teresa Cardoso; Isaura Ribeiro; Paulo Chaves; Juliana Ines Santos; Dulce Quelhas; Lucia Lacerda; Elisa L Leao Teles; Anthony H Futerman; Laura Vilarinho; Sandra Alves;
PUBLISHED: 2020, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE
INDEXED IN: WOS
25
TITLE: Is the Proteome of Bronchoalveolar Lavage Extracellular Vesicles a Marker of Advanced Lung Cancer?  Full Text
AUTHORS: Ana Sofia Carvalho; Maria Carolina Strano Moraes; Chan H Hyun Na; Ivo Fierro Monti; Andreia Henriques; Sara Zahedi; Cristian Bodo; Erin M Tranfield; Ana Laura Sousa; Ana Farinho; Luis Vaz Rodrigues; Paula Pinto; Cristina Barbara; Leonor Mota; Tiago Tavares de Abreu; Julio Semedo; Susana Seixas; Prashant Kumar; Bruno Costa Silva; Akhilesh Pandey; Rune Matthiesen; ...More
PUBLISHED: 2020, SOURCE: CANCERS, VOLUME: 12, ISSUE: 11
INDEXED IN: Scopus WOS
26
TITLE: Semen quality is affected by HLA class I alleles together with sexually transmitted diseases  Full Text
AUTHORS: Marques, PI; Goncalves, JC; Monteiro, C; Cavadas, B; Nagirnaja, L; Barros, N; Barros, A ; Carvalho, F ; Lopes, AM ; Seixas, S;
PUBLISHED: 2019, SOURCE: ANDROLOGY, VOLUME: 7, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 6
27
TITLE: RNA Therapeutics: How Far Have We Gone?
AUTHORS: Maria Francisca Coutinho; Liliana Matos; Juliana Ines Santos; Sandra Alves;
PUBLISHED: 2019, SOURCE: MRNA METABOLISM IN HUMAN DISEASE, VOLUME: 1157
INDEXED IN: Scopus WOS
28
TITLE: Profiling of lung microbiota discloses differences in adenocarcinoma and squamous cell carcinoma  Full Text
AUTHORS: Silvia Gomes; Bruno Cavadas; Joana Catarina Ferreira; Patricia Isabel Marques; Catarina Monteiro; Maria Sucena; Catarina Sousa; Luis Vaz Rodrigues; Gilberto Teixeira; Paula Pinto; Tiago Tavares de Abreu; Cristina Barbara; Julio Semedo; Leonor Mota; Ana Sofia Carvalho; Rune Matthiesen; Luisa Pereira; Susana Seixas;
PUBLISHED: 2019, SOURCE: SCIENTIFIC REPORTS, VOLUME: 9, ISSUE: 1
INDEXED IN: Scopus WOS
29
TITLE: Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population
AUTHORS: Leonor Meira; Rita Boaventura; Susana Seixas; Maria Sucena;
PUBLISHED: 2018, SOURCE: COPD-JOURNAL OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE, VOLUME: 15, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: E-cadherin signal sequence disruption: a novel mechanism underlying hereditary cancer  Full Text
AUTHORS: Joana Figueiredo; Soraia Melo; Kimberley Gamet; Tanis Godwin; Susana Seixas; Joao M Sanches; Parry Guilford; Raquel Seruca;
PUBLISHED: 2018, SOURCE: MOLECULAR CANCER, VOLUME: 17, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 3
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