Sergio Abilio Teixeira Bernardo Sousa


AuthID: R-002-K43

Publications Requiring Validation

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TITLE: Gastrointestinal delivery of codfish Skin-Derived collagen Hydrolysates: Deep eutectic solvent extraction and bioactivity analysis  Full Text
AUTHORS: Silva, Isa; Vaz, Barbara M. C.; Sousa, Sergio; Pintado, Maria Manuela; Coscueta, Ezequiel R.; Ventura, Sonia P. M.;
PUBLISHED: 2024, SOURCE: FOOD RESEARCH INTERNATIONAL, VOLUME: 175
INDEXED IN: Scopus WOS
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TITLE: Defatted Nannochloropsis oculata biomass - Waste or resource?
AUTHORS: Sousa, Sergio; Machado, Manuela; Coscueta, Ezequiel; Ferreira, Andreia S.; Nunes, Claudia; Coimbra, Manuel A.; Freitas, Ana C.; Carvalho, Ana P.; Gomes, Ana M.;
PUBLISHED: 2024, SOURCE: ALGAL RESEARCH-BIOMASS BIOFUELS AND BIOPRODUCTS, VOLUME: 83
INDEXED IN: Scopus WOS CrossRef
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TITLE: Epigenomic and phenotypic characterization of DEGCAGS syndrome  Full Text
AUTHORS: Karimi, Karim; Weis, Denisa; Aukrust, Ingvild; Hsieh, Tzung Chien; Horackova, Marie; Paulsen, Julie; Mendoza Londono, Roberto; Dupuis, Lucie; Dickson, Megan; Lesman, Hellen; Lau, Tracy; Murphy, David; Hama Salih, Khalid; Al Musawi, Bassam M. S.; Al Obaidi, Ruqayah G. Y.; Rydzanicz, Malgorzata; Biela, Mateus; Santos, Mafalda Saraiva; Aldeeri, Abdulrahman; Gazda, Hanna T.; Pais, Lynn; Shril, Shirlee; Dollner, Henrik; Bartakke, Sandip; Laccone, Franco; Soltysova, Andrea; Kitzler, Thomas; Soliman, Neveen A.; Relator, Raissa; Levy, Michael A.; Kerkhof, Jennifer; Rzasa, Jessica; Houlden, Henry; Pilshofer, Gabriela V.; Jobst Schwan, Tilman; Hildebrandt, Friedhelm; Sousa, Sergio B.; Maroofian, Reza; Yu, Timothy W.; Krawitz, Peter; Sadikovic, Bekim; Douzgou Houge, Sofia; ...More
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS
INDEXED IN: Scopus WOS
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TITLE: Pycnodysostosis: A rare cause of pathological fractures and exuberant clinical manifestations in two sisters  Full Text
AUTHORS: Sousa, Marlene; Prata, Ana Rita; Maduro, Ana Isabel; Sousa, Sergio B.; Malcata, Armando;
PUBLISHED: 2023, SOURCE: JOINT BONE SPINE, VOLUME: 90, ISSUE: 4
INDEXED IN: Scopus WOS
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TITLE: Fibrodysplasia ossificans progressiva: when a double skeleton is present  Full Text
AUTHORS: Maduro, Ana Isabel; Mendes, Beatriz; Saraiva, Andre Pinto; Sousa, Marlene; Marques, Marta; Sousa, Sergio B.; Salvador, Maria Joao; Malcata, Armando; Serra, Sara;
PUBLISHED: 2023, SOURCE: CLINICAL RHEUMATOLOGY
INDEXED IN: Scopus WOS
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TITLE: TWO CASE REPORT OF A NEW RECOGNIZABLE SYNDROME - DEGCAGS (DEVELOPMENTAL DELAY WITH GASTROINTESTINAL, CARDIOVASCULAR, GENITOURINARY, AND SKELETAL ABNORMALITIES)  Full Text
AUTHORS: Santos, Mafalda; Azevedo, Joana; Carvalho, Ana L.; Sousa, Sergio B.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
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TITLE: European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis  Full Text
AUTHORS: Irving, Melita; AlSayed, Moeenaldeen; Arundel, Paul; Baujat, Genevieve; Ben Omran, Tawfeg; Boero, Silvio; Cormier Daire, Valerie; Fredwall, Svein; Guillen Navarro, Encarna; Hoyer Kuhn, Heike; Kunkel, Philip; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Sousa, Sergio B.;
PUBLISHED: 2023, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 18, ISSUE: 1
INDEXED IN: WOS
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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
INDEXED IN: Scopus WOS
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