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3 Resultados para Busca Geral

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Refinado por: Base de dados/Biblioteca: Single Journals

Result Number	Material Type	Record Details and Options
1	Material Type: Artigo	Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Rice, Gillian I ; Del Toro Duany, Yoandris ; Jenkinson, Emma M ; Forte, Gabriella Ma ; Anderson, Beverley H ; Ariaudo, Giada ; Bader-Meunier, Brigitte ; Baildam, Eileen M ; Battini, Roberta ; Beresford, Michael W ; Casarano, Manuela ; Chouchane, Mondher ; Cimaz, Rolando ; Collins, Abigail E ; Cordeiro, Nuno Jv ; Dale, Russell C ; Davidson, Joyce E ; De Waele, Liesbeth ; Desguerre, Isabelle ; Faivre, Laurence ; Fazzi, Elisa ; Isidor, Bertrand ; Lagae, Lieven ; Latchman, Andrew R ; Lebon, Pierre ; Li, Chumei ; Livingston, John H ; Lourenço, Charles M ; Mancardi, Maria Margherita ; Masurel-Paulet, Alice ; McInnes, Iain B ; Menezes, Manoj P ; Mignot, Cyril ; O'Sullivan, James ; Orcesi, Simona ; Picco, Paolo P ; Riva, Enrica ; Robinson, Robert A ; Rodriguez, Diana ; Salvatici, Elisabetta ; Scott, Christiaan ; Szybowska, Marta ; Tolmie, John L ; Vanderver, Adeline ; Vanhulle, Catherine ; Vieira, Jose Pedro ; Webb, Kate ; Whitney, Robyn N ; Williams, Simon G ; Wolfe, Lynne A ; Zuberi, Sameer M ; Hur, Sun ; Crow, Yanick J Nature genetics, 2014-05, Vol.46 (5), p.503-509 [Periódico revisado por pares] United States: Nature Publishing Group Texto completo disponível Exibir Online Detalhes Resenhas & Tags Mais Opções Nº de Citações Citações Citado por
2	Material Type: Artigo	Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions Purdue, Mark P ; Dutta, Diptavo ; Machiela, Mitchell J ; Okuhara, Dayne ; Ferreiro-Iglesias, Aida ; Scheet, Paul ; Liu, Aoxing ; Antwi, Samuel O ; Larkin, James ; Zequi, Stênio C ; Hajiran, Ali ; Lawson, Keith A ; Cárcano, Flavio ; Blanchet, Odile ; Shuch, Brian ; Nepple, Kenneth G ; Sundi, Debasish ; Diver, W Ryan ; Folgueira, Maria A A K ; van Bokhoven, Adrie ; Neffa, Florencia ; Brown, Kevin M ; Hofmann, Jonathan N ; Rhee, Jongeun ; Cole, Nathan R ; Hicks, Belynda D ; Manning, Michelle R ; Hutchinson, Amy A ; Linehan, W Marston ; Lori, Adriana ; Ferragu, Matthieu ; Zidane-Marinnes, Merzouka ; Serrano, Sérgio V ; Decia, Ricardo ; Carusso, Florencia ; Graham, Laura S ; Bilen, Mehmet A ; Arciero, Cletus ; Pellegrin, Isabelle ; Banks, Rosamonde E ; Vasudev, Naveen S ; Soomro, Naeem ; Stewart, Grant D ; Adeyoju, Adebanji ; Bromage, Stephen ; Hrouda, David ; Gibbons, Norma ; Patel, Poulam ; Sullivan, Mark ; Protheroe, Andrew ; Nugent, Francesca I ; Fournier, Michelle J ; Zhang, Xiaoyu ; Komisarenko, Maria ; Eisen, Timothy ; Cunningham, Sonia A ; Uzzo, Robert G ; Zaridze, David ; Mukeria, Anush ; Foretova, Lenka ; Mates, Dana ; Jinga, Viorel ; Rascu, Stefan ; Mijuskovic, Mirjana ; Savic, Slavisa ; Milosavljevic, Sasa ; Gaborieau, Valérie ; Abedi-Ardekani, Behnoush ; McKay, James ; Johansson, Mattias ; Hayman, Lindsay ; Li, Jason ; Sares, Claudia T G ; Reis, Rodolfo B ; Gallucci, Fabio P ; Cordeiro, Mauricio D ; Jeong, Anhyo ; Greenberg, Samantha E ; Sanchez, Alejandro ; Thompson, R Houston ; Sharma, Vidit ; Thiel, David D ; Ball, Colleen T ; Abreu, Diego ; Lam, Elaine T ; Nahas, William C ; Master, Viraj A ; Patel, Alpa V ; Freedman, Neal D ; Bigot, Pierre ; Reis, Rui M ; Colli, Leandro M ; Manley, Brandon J ; Terao, Chikashi ; Carraro, Dirce M ; Houlston, Richard ; Eckel-Passow, Jeanette E ; Abbosh, Philip H ; Gu, Jian ; Chanock, Stephen J Nature genetics, 2024-05, Vol.56 (5), p.809-818 [Periódico revisado por pares] United States Texto completo disponível Exibir Online Detalhes Resenhas & Tags Mais Opções Nº de Citações Citações Citado por
3	Material Type: Artigo	Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia André, Jean-Luc ; Lama, Giuliana ; Joseph, Mark ; Loirat, Chantal ; Illies, Friederike ; Bogdanovic, Radovan ; Milford, David V ; Saraiva, Jorge M ; Stein, Anja ; Takashima, Hiroshi ; Tizard, Jane ; Rosenbarker, Lisa ; Cockfield, Sandra ; Petty, Elizabeth M ; John, Joy ; Burguet, Antoine ; Schmidt, Beate ; Smith, Graham C ; Lupski, James R ; Weksberg, Rosanna ; Cordeiro, Isabel ; Yan, Jiong ; Fründ, Stefan ; Stankiewicz, Pawel ; McLeod, D. Ross ; Stockton, David W ; Rodrigo, Francisco ; Kaitila, Ilkka ; Spranger, Jürgen ; Thiele, Hannelore ; Boerkoel, Cornelius F Nature genetics, 2002-02, Vol.30 (2), p.215-220 [Periódico revisado por pares] London: Nature Publishing Group Texto completo disponível Exibir Online Detalhes Resenhas & Tags Mais Opções Nº de Citações Citações Citado por