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Material Type: Artigo
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Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variantGulsevin, Alican ; Hamid, Rizwan ; Neumann, Serena ; Phillips, John A. ; Adams, David R. ; Afzali, Ben ; Andrews, Ashley ; Bademci, Guney ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Bayrak‐Toydemir, Pinar ; Beck, Anita ; Bennett, Jimmy ; Berry, Gerard T. ; Bican, Anna ; Bohnsack, John ; Bonner, Devon ; Borja, Nicholas ; Butte, Manish J. ; Byrd, William E. ; Callaway, Kaitlin ; Carvalho, George ; Chanprasert, Sirisak ; Chinn, Ivan ; Clark, Gary D. ; Cogan, Joy D. ; Coggins, Matthew ; Corner, Brian ; Dipple, Katrina ; Doherty, Daniel ; Douglas, Jessica ; Emrick, Lisa T. ; Eng, Christine M. ; Fogel, Brent L. ; Fu, Jiayu ; Glass, Ian ; Gropman, Andrea ; Halley, Meghan C. ; Hassey, Kelly ; Hayes, Nichole ; Hing, Anne ; Horike‐Pyne, Martha ; Huang, Alden ; Huang, Yan ; Kaitryn, Emerald ; Kanca, Oguz ; Kohler, Jennefer N. ; Krakow, Deborah ; Lam, Christina ; Lanpher, Brendan C. ; Lanza, Ian R. ; Liu, Pengfei ; Longo, Nicola ; Mahoney, Rachel ; Marth, Gabor ; McCray, Alexa T. ; Might, Matthew ; Miller, Danny ; Moretti, Paolo ; Mulvihill, John J. ; Mulvihill, Lindsay ; Neumann, Serena ; Novacic, Donna ; Orengo, James P. ; Pace, Laura ; Pak, Stephen ; Parker, Neil H. ; Pinto e Vairo, Filippo ; Posey, Jennifer E. ; Potocki, Lorraine ; Rader, Daniel J. ; Rosenfeld, Jill A. ; Ruzhnikov, Maura ; Sampson, Jacinda B. ; Schoch, Kelly ; Shashi, Vandana ; Shin, Jimann ; Silverman, Edwin K. ; Skelton, Tammi ; Spillmann, Rebecca C. ; Stergachis, Andrew ; Stoler, Joan M. ; Sutton, Shirley ; Sweetser, David A. ; Tabor, Holly K. ; Tan, Queenie ; Tan, Amelia L. M. ; Tifft, Cynthia J. ; Viskochil, Dave ; Walker, Melissa ; Walley, Nicole M. ; Wambach, Jennifer ; Ward, Patricia A. ; Wegner, Daniel ; Hubshman, Monika Weisz ; Wener, Mark ; Wenger, Tara ; Westerfield, Monte ; Wood, Heidi ; Worley, KimAmerican journal of medical genetics. Part A, 2024-07, Vol.194 (7), p.e63597-n/a [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Longitudinal outcomes of obeticholic acid therapy in ursodiol‐nonresponsive primary biliary cholangitis: Stratifying the impact of add‐on fibrates in real‐world practiceGómez, E. ; Montero, J. L. ; Molina, E. ; García‐Buey, L. ; Casado, M. ; Fuentes, J. ; Simón, M. A. ; Díaz‐González, A. ; Jorquera, F. ; Morillas, R. M. ; Presa, J. ; Berenguer, M. ; Conde, M. I. ; Olveira, A. ; Macedo, G. ; Garrido, I. ; Hernández‐Guerra, M. ; Olivas, I. ; Rodríguez‐Tajes, S. ; Londoño, M. ; Sousa, J. M. ; Ampuero, J. ; Romero‐González, E. ; González‐Padilla, Sh ; Escudero‐García, D. ; Carvalho, A. ; Santos, A. ; Gutiérrez, M. L. ; Pérez‐Fernández, E. ; Aburruza, L. ; Uriz, J. ; Gomes, D. ; Santos, L. ; Martínez‐González, J. ; Albillos, A. ; Fernández‐Rodríguez, C. M.Alimentary pharmacology & therapeutics, 2024-06, Vol.59 (12), p.1604-1615 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Enhanced recovery after fetal spina bifida surgery: what is our global practice?Nulens, K ; Kunpalin, Y ; Nijs, K ; Carvalho, J C A ; Pollard, L ; Abbasi, N ; Ryan, G ; Van Mieghem, TUltrasound in obstetrics & gynecology, 2024-05 [Periódico revisado por pares]EnglandTexto completo disponível |
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Material Type: Artigo
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Erythrocytes' surface properties and stiffness predict survival and functional decline in ALS patientsLopes, Catarina S. ; Pronto‐Laborinho, Ana Catarina ; Conceição, Vasco A. ; Freitas, Teresa ; Matias, Gonçalo L. ; Gromicho, Marta ; Santos, Nuno C. ; Carvalho, Mamede ; Carvalho, Filomena A.BioFactors (Oxford), 2024-05, Vol.50 (3), p.558-571 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Problematic pornography use across countries, genders, and sexual orientations: Insights from the International Sex Survey and comparison of different assessment toolsBőthe, Beáta ; Nagy, Léna ; Koós, Mónika ; Demetrovics, Zsolt ; Potenza, Marc N. ; Kraus, Shane W. ; Demirgül, Süleyman A. ; Gaudet, Émilie ; Ballester‐Arnal, Rafael ; Batthyány, Dominik ; Bergeron, Sophie ; Billieux, Joël ; Briken, Peer ; Burkauskas, Julius ; Cárdenas‐López, Georgina ; Carvalho, Joana ; Castro‐Calvo, Jesús ; Chen, Lijun ; Ciocca, Giacomo ; Corazza, Ornella ; Csako, Rita ; Fernandez, David P. ; Fernandez, Elaine F. ; Fujiwara, Hironobu ; Fuss, Johannes ; Gabrhelík, Roman ; Gewirtz‐Meydan, Ateret ; Gjoneska, Biljana ; Gola, Mateusz ; Grubbs, Joshua B. ; Hashim, Hashim T. ; Islam, Md. Saiful ; Ismail, Mustafa ; Jiménez‐Martínez, Martha C. ; Jurin, Tanja ; Kalina, Ondrej ; Klein, Verena ; Költő, András ; Lee, Chih‐Ting ; Lee, Sang‐Kyu ; Lewczuk, Karol ; Lin, Chung‐Ying ; Lochner, Christine ; López‐Alvarado, Silvia ; Lukavská, Kateřina ; Mayta‐Tristán, Percy ; Miller, Dan J. ; Orosová, Oľga ; Orosz, Gábor ; Ponce, Fernando P. ; Quintana, Gonzalo R. ; Quintero Garzola, Gabriel C. ; Ramos‐Diaz, Jano ; Rigaud, Kévin ; Rousseau, Ann ; Scanavino, Marco De Tubino ; Schulmeyer, Marion K. ; Sharan, Pratap ; Shibata, Mami ; Shoib, Sheikh ; Sigre‐Leirós, Vera ; Sniewski, Luke ; Spasovski, Ognen ; Steibliene, Vesta ; Stein, Dan J. ; Strizek, Julian ; Štulhofer, Aleksandar ; Ünsal, Berk C. ; Vaillancourt‐Morel, Marie‐Pier ; Van Hout, Marie ClaireAddiction (Abingdon, England), 2024-05, Vol.119 (5), p.928-950 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Adolescents and Young Adults with Type 1 Diabetes Present Changes in Arterial Compliance and Resistance and Increased Arterial StiffnessCarvalho-Ribeiro, Igor A. ; Cunha, Letícia C. F. ; Ribeiro, Lorena R. ; Lima, Matheus N. ; Ferreira-Silva, Breno A. ; S. Rajão, Juliana ; Bittencourt, Juliana C. ; F. A. Pinheiro, Juliana ; Rodrigues-Machado, Maria da Glória Hoffman, Robert P.Pediatric diabetes, 2024-04, Vol.2024, p.1-8 [Periódico revisado por pares]HindawiTexto completo disponível |
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Material Type: Artigo
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Nucleus accumbens neurons dynamically respond to appetitive and aversive associative learningDeseyve, Catarina ; Domingues, Ana Verónica ; Carvalho, Tawan T. A. ; Armada, Gisela ; Correia, Raquel ; Vieitas‐Gaspar, Natacha ; Wezik, Marcelina ; Pinto, Luísa ; Sousa, Nuno ; Coimbra, Bárbara ; Rodrigues, Ana João ; Soares‐Cunha, CarinaJournal of neurochemistry, 2024-03, Vol.168 (3), p.312-327 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Microorganism community structure: A characterisation of agrosystems from Madeira ArchipelagoOliveira, Maria Cristina O. ; Ragonezi, Carla ; Valente, Sofia ; Freitas, José G. R. ; Pinheiro de Carvalho, Miguel A. A.Environmental microbiology reports, 2024-02, Vol.16 (1), p.e13227-n/a [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Potential effects of carbamylation on the prothrombin time, activated partial thromboplastin time, and fibrinogenMastella, Aline K. ; Carvalho, José A. M. ; Pereira, Karla N. ; Neves, Yasmin S. ; Stein, Carolina S. ; Bochi, Guilherme V. ; Moresco, Rafael N.International journal of laboratory hematology, 2024-02, Vol.46 (1), p.173-175 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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MuDoGeR: Multi‐Domain Genome recovery from metagenomes made easyRocha, Ulisses ; Coelho Kasmanas, Jonas ; Kallies, René ; Saraiva, Joao Pedro ; Toscan, Rodolfo Brizola ; Štefanič, Polonca ; Bicalho, Marcos Fleming ; Borim Correa, Felipe ; Baştürk, Merve Nida ; Fousekis, Efthymios ; Viana Barbosa, Luiz Miguel ; Plewka, Julia ; Probst, Alexander J. ; Baldrian, Petr ; Stadler, Peter F. ; Bartholomäus, Alexander ; Rosado, Alexandre Soares ; Fiore‐Donno, Ana‐Maria ; Leon Ferreira de Carvalho, André Carlos Ponce ; Gubry‐Rangin, Cecile ; Machado, Daniel ; Sanches, Danilo S. ; Wagner, Dirk ; Berg, Gabriele ; Mulec, Ines Mundic ; Muehe, Marie ; Bonkowski, Michael ; Gomes, Newton ; Peixoto, Raquel ; Costa, Rodrigo ; Kleinsteuber, Sabine ; Gribaldo, Simonetta ; Costa, Tina Keller ; Pellizari, VivianMolecular ecology resources, 2024-02, Vol.24 (2), p.e13904-n/a [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |