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1 |
Material Type: Artigo
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Duchenne muscular dystrophy in a girl with a 45, X/46, XX/47, XXX chromosome constitutionBortolini, Eliete Rabbi ; da Silva, Déa Martins ; Chequer, Rosemary Santos ; Vianna-Morgante, Angela M. ; Zatz, Mayana ; Opitz, John M. ; Reynolds, James F.American journal of medical genetics, 1986-10, Vol.25 (2), p.239-243New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNAPorreco, Richard P., MD ; Garite, Thomas J., MD ; Maurel, Kimberly, MSN, CNS ; Marusiak, Barbara, MS, CRM ; Ehrich, Mathias, MD ; van den Boom, Dirk, PhD ; Deciu, Cosmin, MS ; Bombard, Allan, MDAmerican journal of obstetrics and gynecology, 2014-10, Vol.211 (4), p.365.e1-365.e12 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancyBOYD, Patricia Anne ; LOANE, Maria ; GARNE, Ester ; KHOSHNOOD, Babak ; DOLK, HelenEuropean journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.231-234 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Genome-wide meta-analysis identifies new susceptibility loci for migraineAnttila, Verneri ; Winsvold, Bendik S ; Gormley, Padhraig ; Kurth, Tobias ; Bettella, Francesco ; McMahon, George ; Kallela, Mikko ; Malik, Rainer ; de Vries, Boukje ; Terwindt, Gisela ; Medland, Sarah E ; Todt, Unda ; McArdle, Wendy L ; Quaye, Lydia ; Koiranen, Markku ; Ikram, M Arfan ; Lehtimäki, Terho ; Stam, Anine H ; Ligthart, Lannie ; Wedenoja, Juho ; Dunham, Ian ; Neale, Benjamin M ; Palta, Priit ; Hamalainen, Eija ; Schürks, Markus ; Rose, Lynda M ; Buring, Julie E ; Ridker, Paul M ; Steinberg, Stacy ; Stefansson, Hreinn ; Jakobsson, Finnbogi ; Lawlor, Debbie A ; Evans, David M ; Ring, Susan M ; Färkkilä, Markus ; Artto, Ville ; Kaunisto, Mari A ; Freilinger, Tobias ; Schoenen, Jean ; Frants, Rune R ; Pelzer, Nadine ; Weller, Claudia M ; Zielman, Ronald ; Heath, Andrew C ; Madden, Pamela A F ; Montgomery, Grant W ; Martin, Nicholas G ; Borck, Guntram ; Göbel, Hartmut ; Heinze, Axel ; Heinze-Kuhn, Katja ; Williams, Frances M K ; Hartikainen, Anna-Liisa ; Pouta, Anneli ; van den Ende, Joyce ; Uitterlinden, Andre G ; Hofman, Albert ; Amin, Najaf ; Hottenga, Jouke-Jan ; Vink, Jacqueline M ; Heikkilä, Kauko ; Alexander, Michael ; Muller-Myhsok, Bertram ; Schreiber, Stefan ; Meitinger, Thomas ; Wichmann, Heinz Erich ; Aromaa, Arpo ; Eriksson, Johan G ; Traynor, Bryan ; Trabzuni, Daniah ; Rossin, Elizabeth ; Lage, Kasper ; Jacobs, Suzanne B R ; Gibbs, J Raphael ; Birney, Ewan ; Kaprio, Jaakko ; Penninx, Brenda W ; Boomsma, Dorret I ; van Duijn, Cornelia ; Raitakari, Olli ; Jarvelin, Marjo-Riitta ; Zwart, John-Anker ; Cherkas, Lynn ; Strachan, David P ; Kubisch, Christian ; Ferrari, Michel D ; van den Maagdenberg, Arn M J M ; Dichgans, Martin ; Wessman, Maija ; Smith, George Davey ; Stefansson, Kari ; Daly, Mark J ; Nyholt, Dale R ; Chasman, Daniel ; Palotie, AarnoNature genetics, 2013-08, Vol.45 (8), p.912-917 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Prognostic factors in salvage surgery for recurrent oral and oropharyngeal cancerGonçalves Agra, Ivan Marcelo ; Lopes Carvalho, André ; Samsonovski Ulbrich, Fábio ; de Campos, Olímpio Daniel ; Martins, Everton Pontes ; Magrin, José ; Kowalski, Luiz PauloHead & neck, 2006-02, Vol.28 (2), p.107-113 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
6 |
Material Type: Artigo
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Predictive Factors for the Risk of Sexual Dysfunction in Climacteric Women: Population-based StudyRomano Marquez Reis, Sandra Cristina ; Martins Pinto, Juliana ; Aparecida Porcatti de Walsh, Isabel ; Sulyvan de Castro, Shamyr ; Cristina Cortez Carneiro Meirelles, Maria ; Santos Pereira-Baldon, VanessaJournal of sexual medicine, 2022-10, Vol.19 (10), p.1546-1552 [Periódico revisado por pares]NetherlandsTexto completo disponível |
7 |
Material Type: Artigo
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Mitofusin-mediated contacts between mitochondria and peroxisomes regulate mitochondrial fusionAlsayyah, Cynthia ; Singh, Manish K ; Morcillo-Parra, Maria Angeles ; Cavellini, Laetitia ; Shai, Nadav ; Schmitt, Christine ; Schuldiner, Maya ; Zalckvar, Einat ; Mallet, Adeline ; Belgareh-Touzé, Naïma ; Zimmer, Christophe ; Cohen, Mickaël M Martin, Sophie G.PLoS biology, 2024-04, Vol.22 (4), p.e3002602-e3002602 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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A Randomized Trial of Convalescent Plasma in Covid-19 Severe PneumoniaSimonovich, Ventura A ; Burgos Pratx, Leandro D ; Scibona, Paula ; Beruto, María V ; Vallone, Marcelo G ; Vázquez, Carolina ; Savoy, Nadia ; Giunta, Diego H ; Pérez, Lucía G ; Sánchez, Marisa del L ; Gamarnik, Andrea Vanesa ; Ojeda, Diego S ; Santoro, Diego M ; Camino, Pablo J ; Antelo, Sebastian ; Rainero, Karina ; Vidiella, Gabriela P ; Miyazaki, Erica A ; Cornistein, Wanda ; Trabadelo, Omar A ; Ross, Fernando M ; Spotti, Mariano ; Funtowicz, Gabriel ; Scordo, Walter E ; Losso, Marcelo H ; Ferniot, Inés ; Pardo, Pablo E ; Rodriguez, Eulalia ; Rucci, Pablo ; Pasquali, Julieta ; Fuentes, Nora A ; Esperatti, Mariano ; Speroni, Gerardo A ; Nannini, Esteban C ; Matteaccio, Alejandra ; Michelangelo, Hernán G ; Follmann, Dean ; Lane, H. Clifford ; Belloso, Waldo HThe New England journal of medicine, 2021-02, Vol.384 (7), p.619-629 [Periódico revisado por pares]United States: Massachusetts Medical SocietyTexto completo disponível |
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Material Type: Artigo
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Advance directives among community-dwelling stroke survivorsGupta, Soumya ; Chen, Bridget J ; Suolang, Deji ; Cooper, Rachel ; Faigle, Roland Schneider, MartinPloS one, 2023-10, Vol.18 (10), p.e0292484-e0292484 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Gestational age data completeness, quality and validity in population-based surveys: EN-INDEPTH studyHaider, M Moinuddin ; Mahmud, Kaiser ; Blencowe, Hannah ; Ahmed, Tahmeed ; Akuze, Joseph ; Cousens, Simon ; Delwar, Nafisa ; Fisker, Ane B ; Ponce Hardy, Victoria ; Hasan, S M Tafsir ; Imam, Md Ali ; Kajungu, Dan ; Khan, Md Alfazal ; Martins, Justiniano S D ; Nahar, Quamrun ; Nettey, Obed Ernest A ; Tesega, Adane Kebede ; Yargawa, Judith ; Alam, Nurul ; Lawn, Joy EPopulation health metrics, 2021-02, Vol.19 (Suppl 1), p.16-16, Article 16 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |