Sergio Abilio Teixeira Bernardo Sousa
AuthID: R-002-K43
11
TITLE: Anti-obesity potential of a yogurt functionalized with a CLNA-rich pomegranate oil
AUTHORS: Machado, Manuela; Sousa, Sergio; Rodriguez Alcala, Luis M.; Gomes, Ana Maria; Pintado, Manuela;
PUBLISHED: 2023, SOURCE: FOOD RESEARCH INTERNATIONAL, VOLUME: 173
AUTHORS: Machado, Manuela; Sousa, Sergio; Rodriguez Alcala, Luis M.; Gomes, Ana Maria; Pintado, Manuela;
PUBLISHED: 2023, SOURCE: FOOD RESEARCH INTERNATIONAL, VOLUME: 173
INDEXED IN: 
Scopus 
WOS
Scopus WOS12
TITLE: Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder <i>SERPINF1</i> variant
AUTHORS: Travessa, Andre M.; Dias, Patricia; Rosmaninho Salgado, Joana; Aza Carmona, Miriam; Moldovan, Oana; Diaz Gonzalez, Francisca; Godinho, Fatima; Romeu, Jose Carlos; Oliveira Ramos, Filipa; Barteriros, Maria do Ceu; Sousa, Sergio B.; Heath, Karen E.; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 66, ISSUE: 11
AUTHORS: Travessa, Andre M.; Dias, Patricia; Rosmaninho Salgado, Joana; Aza Carmona, Miriam; Moldovan, Oana; Diaz Gonzalez, Francisca; Godinho, Fatima; Romeu, Jose Carlos; Oliveira Ramos, Filipa; Barteriros, Maria do Ceu; Sousa, Sergio B.; Heath, Karen E.; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 66, ISSUE: 11
INDEXED IN: Scopus WOS
Scopus WOS13
TITLE: Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice Full Text
AUTHORS: Semler, Oliver; Cormier Daire, Valerie; Lausch, Ekkehart; Bober, Michael B.; Carroll, Ricki; Sousa, Sergio B.; Deyle, David; Faden, Maha; Hartmann, Gabriele; Huser, Aaron J.; Legare, Janet M.; Mohnike, Klaus; Rohrer, Tilman R.; Rutsch, Frank; Smith, Pamela; Travessa, Andre M.; Verardo, Angela; White, Klane K.; Wilcox, William R.; Hoover Fong, Julie;
PUBLISHED: 2023, SOURCE: ADVANCES IN THERAPY
AUTHORS: Semler, Oliver; Cormier Daire, Valerie; Lausch, Ekkehart; Bober, Michael B.; Carroll, Ricki; Sousa, Sergio B.; Deyle, David; Faden, Maha; Hartmann, Gabriele; Huser, Aaron J.; Legare, Janet M.; Mohnike, Klaus; Rohrer, Tilman R.; Rutsch, Frank; Smith, Pamela; Travessa, Andre M.; Verardo, Angela; White, Klane K.; Wilcox, William R.; Hoover Fong, Julie;
PUBLISHED: 2023, SOURCE: ADVANCES IN THERAPY
INDEXED IN: Scopus WOS
Scopus WOS14
TITLE: 16p11.2 microdeletion: a common copy number variation (CNV) identified in a Portuguese pediatric cohort with syndromic obesity
AUTHORS: Rosmaninho Salgado, Joana; Sousa, Sergio B.; Pires, Luis M.; Ferreira, Susana; Melo, Joana B.; Carreira, Isabel M.; Saraiva, Jorge M.;
PUBLISHED: 2023, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 96
AUTHORS: Rosmaninho Salgado, Joana; Sousa, Sergio B.; Pires, Luis M.; Ferreira, Susana; Melo, Joana B.; Carreira, Isabel M.; Saraiva, Jorge M.;
PUBLISHED: 2023, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 96
INDEXED IN: WOS
WOS15
TITLE: <i>MC4R</i> deficiency in a portuguese pediatric cohort study
AUTHORS: Mendes, Ariana C.; Pereira, Janet; Mirante, Alice; Saraiva, Jorge M.; Soares, Ana R.; Sousa, Sergio B.; Rosmaninho Salgado, Joana;
PUBLISHED: 2023, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 96
AUTHORS: Mendes, Ariana C.; Pereira, Janet; Mirante, Alice; Saraiva, Jorge M.; Soares, Ana R.; Sousa, Sergio B.; Rosmaninho Salgado, Joana;
PUBLISHED: 2023, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 96
INDEXED IN: WOS
WOS16
TITLE: Coping with poachers in European stalked barnacle fisheries: Insights from a stakeholder workshop Full Text
AUTHORS: Geiger, KJ; Rivera, A; Aguion, A; Alvarez, J; Arrontes, J; Borrell, YJ; Cruz, T; Davoult, D; Dubert, J; Feis, ME; Fernandes, JN; Fernandez, C; Garcia Florez, L; Jacinto, D; Jollivet, D; Macho, G; Mateo, E; Mateus, D; Moran, P; Muniz, C; ...More
PUBLISHED: 2022, SOURCE: MARINE POLICY, VOLUME: 135
AUTHORS: Geiger, KJ; Rivera, A; Aguion, A; Alvarez, J; Arrontes, J; Borrell, YJ; Cruz, T; Davoult, D; Dubert, J; Feis, ME; Fernandes, JN; Fernandez, C; Garcia Florez, L; Jacinto, D; Jollivet, D; Macho, G; Mateo, E; Mateus, D; Moran, P; Muniz, C; ...More
PUBLISHED: 2022, SOURCE: MARINE POLICY, VOLUME: 135
INDEXED IN: Scopus WOS
Scopus WOS17
TITLE: A Path Model of University Dropout Predictors: The Role of Satisfaction, the Use of Self-Regulation Learning Strategies and Students' Engagement Full Text
AUTHORS: Bernardo, AB; Galve Gonzalez, C; Nunez, JC; Almeida, LS;
PUBLISHED: 2022, SOURCE: SUSTAINABILITY, VOLUME: 14, ISSUE: 3
AUTHORS: Bernardo, AB; Galve Gonzalez, C; Nunez, JC; Almeida, LS;
PUBLISHED: 2022, SOURCE: SUSTAINABILITY, VOLUME: 14, ISSUE: 3
INDEXED IN: Scopus WOS
Scopus WOS18
TITLE: The first two Portuguese patients with Schuurs-Hoeijmakers syndrome: case report and review of the literature
AUTHORS: Ferreira, Susana Lemos; Almeida, Pedro Maia; Rosas, Catarina Silva; Melo, Mafalda Santos; Sousa, Sergio Bernardo; Amorim, Marta; Kay, Teresa;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Ferreira, Susana Lemos; Almeida, Pedro Maia; Rosas, Catarina Silva; Melo, Mafalda Santos; Sousa, Sergio Bernardo; Amorim, Marta; Kay, Teresa;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS19
TITLE: Importance of a multidisciplinary team when analyzing WES: higher diagnostic rate, increased confidence and better care
AUTHORS: Sousa, Sergio B.; Simoes, Maria Jose; Campos Xavier, Belinda; Froufe, Hugo; Ribeiro, Carolina; Mendes, Joao; Sa, Joaquim; Venancio, Margarida; Egas, Conceicao; Gomes, Ana Catarina; Saraiva, Jorge M.;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
AUTHORS: Sousa, Sergio B.; Simoes, Maria Jose; Campos Xavier, Belinda; Froufe, Hugo; Ribeiro, Carolina; Mendes, Joao; Sa, Joaquim; Venancio, Margarida; Egas, Conceicao; Gomes, Ana Catarina; Saraiva, Jorge M.;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
WOS20
TITLE: Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia Full Text
AUTHORS: Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill, V; Sutton, V. Reid; Emrick, Lisa T.; Boycott, Kym M.; Lossos, Alexander; Fellig, Yakov; ...More
PUBLISHED: 2022, SOURCE: ANNALS OF NEUROLOGY
AUTHORS: Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill, V; Sutton, V. Reid; Emrick, Lisa T.; Boycott, Kym M.; Lossos, Alexander; Fellig, Yakov; ...More
PUBLISHED: 2022, SOURCE: ANNALS OF NEUROLOGY
INDEXED IN: Scopus WOS
Scopus WOS