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Material Type: Artigo
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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disordersKaiyrzhanov, Rauan ; Rad, Aboulfazl ; Lin, Sheng-Jia ; Bertoli-Avella, Aida ; Kallemeijn, Wouter W ; Godwin, Annie ; Zaki, Maha S ; Huang, Kevin ; Lau, Tracy ; Petree, Cassidy ; Efthymiou, Stephanie ; Karimiani, Ehsan Ghayoor ; Hempel, Maja ; Normand, Elizabeth A ; Rudnik-Schöneborn, Sabine ; Schatz, Ulrich A ; Baggelaar, Marc P ; Ilyas, Muhammad ; Sultan, Tipu ; Alvi, Javeria Raza ; Ganieva, Manizha ; Fowler, Ben ; Aanicai, Ruxandra ; Tayfun, Gulsen Akay ; Al Saman, Abdulaziz ; Alswaid, Abdulrahman ; Amiri, Nafise ; Asilova, Nilufar ; Shotelersuk, Vorasuk ; Yeetong, Patra ; Azam, Matloob ; Babaei, Meisam ; Monajemi, Gholamreza Bahrami ; Mohammadi, Pouria ; Samie, Saeed ; Banu, Selina Husna ; Pinto Basto, Jorge ; Kortüm, Fanny ; Bauer, Mislen ; Bauer, Peter ; Beetz, Christian ; Garshasbi, Masoud ; Issa, Awatif Hameed ; Eyaid, Wafaa ; Ahmed, Hind ; Hashemi, Narges ; Hassanpour, Kazem ; Herman, Isabella ; Ibrohimov, Sherozjon ; Abdul-Majeed, Ban A ; Imdad, Maria ; Isrofilov, Maksudjon ; Kaiyal, Qassem ; Khan, Suliman ; Kirmse, Brian ; Koster, Janet ; Lourenço, Charles Marques ; Mitani, Tadahiro ; Moldovan, Oana ; Murphy, David ; Najafi, Maryam ; Pehlivan, Davut ; Rocha, Maria Eugenia ; Salpietro, Vincenzo ; Schmidts, Miriam ; Shalata, Adel ; Mahroum, Mohammad ; Talbeya, Jawabreh Kassem ; Taylor, Robert W ; Vazquez, Dayana ; Vetro, Annalisa ; Waterham, Hans R ; Zaman, Mashaya ; Schrader, Tina A ; Chung, Wendy K ; Guerrini, Renzo ; Lupski, James R ; Gleeson, Joseph ; Suri, Mohnish ; Jamshidi, Yalda ; Bhatia, Kailash P ; Vona, Barbara ; Schrader, Michael ; Severino, Mariasavina ; Guille, Matthew ; Tate, Edward W ; Varshney, Gaurav K ; Houlden, Henry ; Maroofian, RezaBrain (London, England : 1878), 2024-04, Vol.147 (4), p.1436-1456 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Generation and characterization of induced pluripotent stem cell line (IBBISTi004-A) from an Angelman syndrome patient carrying a class II deletion of the maternal chromosome 15q11.2-q13Maranga, Carina ; Pereira, Carolina ; Raposo, Ana Cláudia ; Vieira, Adriana ; Duarte, Sofia ; Bekman, Evguenia P. ; Milagre, Inês ; da Rocha, Simão TeixeiraStem cell research, 2022-05, Vol.61, p.102757-102757, Article 102757 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Surveyvan Wegberg, Annemiek M.J. ; Trefz, Friedrich ; Gizewska, Maria ; Ahmed, Sibtain ; Chabraoui, Layachi ; van Spronsen, Francjan J. ; Al Mutairi, F. ; Arnoux, J.B. ; Ballhausen, D. ; Baruteau, J. ; Bernstein, L. ; Bijarnia-Mahay, S. ; Bordugo, A. ; Brodosi, L. ; Brooks, S. ; Chew, H.B. ; Chyz, K. ; Coker, M. ; Collingwood, C. ; Cornejo, V. ; Cozens, A. ; Das, A.M. ; de las Heras Montero, J. ; Debray, F.G. ; Dercksen, M. ; Descartes, M. ; Eminoglu, F.T. ; Enns, G.M. ; Ford, S. ; Freisinger, P. ; Grafakou, O. ; Gramer, G. ; Gray, S. ; Groselj, U. ; Grünert, S.C. ; Haas, D. ; Handoom, B. ; Harte, T.B. ; Hendriksz, C. ; Hoi-Yee Wu, T. ; Jamuar, S.S. ; Jonsson, J.J. ; Jovanovic, A. ; Kern, I. ; Kilavuz, S. ; Knerr, I. ; Korycinska-Chaaban, D. ; Kreile, M. ; Kumru, B. ; Lanpher, B. ; Lapatto, R. ; Leao-Teles, E. ; Leuzzi, V. ; Longo, N. ; Lopez-Uriarte, A. ; Lubout, C.M.A. ; MacDonald, A. ; Mitchell, J. ; Mochel, F. ; Morris, A. ; Moura de Souza, C.F. ; Munoz, T. ; Oscarson, M. ; Õunap, K. ; Paci, S. ; Pastores, G.M. ; Pearl, P.L. ; Pitt, J. ; Poon, G. ; Presner, N. ; Rabaty, A.A. ; Reinson, K. ; Reismann, P. ; Rink, T. ; Rocha, J.C. ; Rodrigues, E. ; Saini, A.G. ; Sander, J. ; Schwartz, I.V.D. ; Sharma, R. ; Siriwardena, K. ; Sirrs, S. ; Sjarif, D.R. ; Sondheimer, N. ; Sparkes, R. ; Specola, N. ; Stepien, K.M. ; Szatmari, I. ; Tchan, M. ; Valle, M.G. ; Vela-Amieva, M. ; Verdaguer, M.L. ; Vergano, S.A. ; Vermeersch, P. ; Wagenmakers, M.A.E.M. ; Weinhold, N. ; Wilson, W.G. ; Zafeiriou, D. ; Zhang, H. ; Ziagaki, A.The Journal of pediatrics, 2021-12, Vol.239, p.231-234.e2 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Neuroradiologic Phenotyping of Galactosemia: From the Neonatal Form to the Chronic StageRossi-Espagnet, M C ; Sudhakar, S ; Fontana, E ; Longo, D ; Davison, J ; Petengill, A L ; Bevivino, E ; Pacheco, F T ; da Rocha, A J ; Hanagandi, P ; Soldatelli, M ; Mankad, K ; do Amaral, L L FAmerican journal of neuroradiology : AJNR, 2021-03, Vol.42 (3), p.590-596 [Periódico revisado por pares]United States: American Society of NeuroradiologyTexto completo disponível |
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Material Type: Artigo
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Cytokine gene functional polymorphisms and phenotypic expression as predictors of evolution from latent to clinical rheumatic heart diseaseTormin, Julia P.A.S. ; Nascimento, Bruno R. ; Sable, Craig A. ; da Silva, Jose Luiz P. ; Brandao-de-Resende, Camilo ; Rocha, Luiz Paulo C. ; Pinto, Cecília H.R. ; Neves, Eula Graciele A. ; Macedo, Frederico V.B. ; Fraga, Clara L. ; Oliveira, Kaciane K.B. ; Diamantino, Adriana C. ; Ribeiro, Antônio Luiz P. ; Beaton, Andrea Z. ; Nunes, Maria Carmo P. ; Dutra, Walderez O.Cytokine (Philadelphia, Pa.), 2021-02, Vol.138, p.155370-155370, Article 155370 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Respiratory Therapeutic Strategies in Children and Adolescents with COVID-19: A Critical ReviewRodovanski, Giovana Pascoali ; da Costa Aguiar, Susana ; Marchi, Bruna Samantha ; do Nascimento Oliveira, Patricia ; Arcêncio, Livia ; Vieira, Danielle Soares Rocha ; Moran, Cristiane AparecidaCurrent pediatric reviews, 2021-01, Vol.17 (1), p.2-14 [Periódico revisado por pares]Sharjah: Bentham Science Publishers LtdTexto completo disponível |
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Material Type: Artigo
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Breast-milk derived potential probiotics as strategy for the management of childhood obesityOddi, S. ; Huber, P. ; Rocha Faria Duque, A.L. ; Vinderola, G. ; Sivieri, K.Food research international, 2020-11, Vol.137, p.109673-109673, Article 109673 [Periódico revisado por pares]Canada: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Cancer inpatients with COVID-19: A report from the Brazilian National Cancer Institutede Melo, Andreia C ; Thuler, Luiz C S ; da Silva, Jesse L ; de Albuquerque, Lucas Z ; Pecego, Ana C ; Rodrigues, Luciana de O R ; da Conceição, Magda S ; Garrido, Marianne M ; Quintella Mendes, Gelcio L ; Mendes Pereira, Ana Cristina P ; Soares, Marcelo A ; Viola, João P B Adrish, MuhammadPloS one, 2020-10, Vol.15 (10), p.e0241261 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Polymorphisms in Inflammatory Genes Modulate Clinical Complications in Patients With Sickle Cell DiseaseTozatto-Maio, Karina ; Girot, Robert ; Ly, Indou Deme ; Silva Pinto, Ana Cristina ; Rocha, Vanderson ; Fernandes, Francisco ; Diagne, Ibrahima ; Benzerara, Yahia ; Dinardo, Carla L ; Soler, Julia Pavan ; Kashima, Simone ; Araujo, Itauá Leston ; Kenzey, Chantal ; Fonseca, Guilherme H H ; Rodrigues, Evandra S ; Volt, Fernanda ; Jarduli, Luciana ; Ruggeri, Annalisa ; Mariaselvam, Christina ; Gualandro, Sandra F M ; Rafii, Hanadi ; Cappelli, Barbara ; Nogueira, Felipe Melo ; Scigliuolo, Graziana Maria ; Guerino-Cunha, Renato Luiz ; Malmegrim, Kelen Cristina Ribeiro ; Simões, Belinda P ; Gluckman, Eliane ; Tamouza, RyadFrontiers in immunology, 2020-09, Vol.11, p.2041-2041 [Periódico revisado por pares]Switzerland: Frontiers Research FoundationTexto completo disponível |
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Material Type: Artigo
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Child maltreatment and cardiovascular disease: quantifying mediation pathways using UK BiobankHo, Frederick K ; Celis-Morales, Carlos ; Gray, Stuart R ; Petermann-Rocha, Fanny ; Lyall, Donald ; Mackay, Daniel ; Sattar, Naveed ; Minnis, Helen ; Pell, Jill PBMC medicine, 2020-06, Vol.18 (1), p.143-143, Article 143 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |