Sergio Abilio Teixeira Bernardo Sousa


AuthID: R-002-K43

Publications Awaiting Confirmation

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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
INDEXED IN: WOS
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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
INDEXED IN: WOS
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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; Prus, Eugenia; Kalish, Yosef; Meiner, Vardiella; Suerink, Manon; Ruivenkamp, Claudia; Muirhead, Kayla; Saadi, Nebal W.; Zaki, Maha S.; Bouman, Arjan; Barakat, Tahsin Stefan; Skidmore, David L.; Osmond, Matthew; Silva, Thiago Oliveira; Murphy, David; Karimiani, Ehsan Ghayoor; Jamshidi, Yalda; Jaddoa, Asaad Ghanim; Tajsharghi, Homa; Jin, Sheng Chih; Abbaszadegan, Mohammad Reza; Ebrahimzadeh Vesal, Reza; Hosseini, Susan; Alavi, Shahryar; Bahreini, Amir; Zarean, Elahe; Salehi, Mohammad Mehdi; Al Sannaa, Nouriya Abbas; Zifarelli, Giovanni; Bauer, Peter; Robson, Simon C.; Coban Akdemir, Zeynep; Travaglini, Lorena; Nicita, Francesco; Jhangiani, Shalini N.; Gibbs, Richard A.; Posey, Jennifer E.; Kruer, Michael C.; Kernohan, Kristin D.; Morales Saute, Jonas A.; Houlden, Henry; Vanderver, Adeline; Elsea, Sarah H.; Pehlivan, Davut; Marafi, Dana; Lupski, James R.; ...More
PUBLISHED: 2022, SOURCE: ANNALS OF NEUROLOGY
INDEXED IN: Scopus WOS
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TITLE: Albright's hereditary osteodystrophy: an entity to recognize
AUTHORS: Maduro, Ana Isabel; Pinto Saraiva, Andre; Pimenta Rodrigues, Orlando; Marques, Marta; Sousa, Sergio; Malcata, Armando; Perez de Nanclares, Guiomar; Serra, Sara;
PUBLISHED: 2022, SOURCE: RHEUMATOLOGY, VOLUME: 61, ISSUE: 11
INDEXED IN: Scopus WOS
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TITLE: Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations  Full Text
AUTHORS: Cormier Daire, Valerie; AlSayed, Moeenaldeen; Alves, Ines; Bengoa, Joana; Ben Omran, Tawfeg; Boero, Silvio; Fredwall, Svein; Garel, Catherine; Guillen Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mortier, Geert; Sousa, Sergio B.; Mohnike, Klaus;
PUBLISHED: 2022, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: Optimising care and follow-up of adults with achondroplasia  Full Text
AUTHORS: Fredwall, Svein; Allum, Yana; AlSayed, Moeenaldeen; Alves, Ines; Ben Omran, Tawfeg; Boero, Silvio; Cormier Daire, Valerie; Guillen Navarro, Encarna; Irving, Melita; Lampe, Christian; Maghnie, Mohamad; Mohnike, Klaus; Mortier, Geert; Sousa, Sergio B.; Wright, Michael;
PUBLISHED: 2022, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: Real-world data in children with achondroplasia after licensing of Vosoritide
AUTHORS: Palm, Katja; Bechthold Dalla Pozza, Susanne; Gausche, Ruth; Hoegler, Wolfgang; Hoyer Kuhn, Heike; Huebner, Angela; Keller, Alexandra; Mirante, Alice; Mohnike, Klaus; Muschol, Nicole; Nader, Sean; Pfaeffle, Roland; Quitter, Friederike; Rohrer, Tilmann; Rutsch, Frank; Schnabel, Dirk; Semler, Oliver; Silva, Isabel; Sousa, Sergio B.; Voelkl, Thomas M. K.; Wechsung, Katja; Weigel, Johannes; Woelffle, Joachim; Lausch, Ekkehart; ...More
PUBLISHED: 2022, SOURCE: HORMONE RESEARCH IN PAEDIATRICS, VOLUME: 95, ISSUE: SUPPL 2
INDEXED IN: WOS
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TITLE: Dimensionality and reliability of a screening instrument for students at-risk of dropping out from Higher Education  Full Text
AUTHORS: Casanova, JR; Gomes, CMA; Bernardo, AB; Nunez, JC; Almeida, LS;
PUBLISHED: 2021, SOURCE: STUDIES IN EDUCATIONAL EVALUATION, VOLUME: 68
INDEXED IN: Scopus WOS
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