未登录 Single-Molecule Real-Time Sequencing for MUC1 VNTR Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis 单分子实时测序用于MUC1可变数目串联重复序列变异以改善常染色体显性肾小管间质性肾脏疾病的诊断 Vrbacka, Alena; Pristoupilova, Anna; Kidd, Kendrah O.; Janousek, Vaclav; Radina, Martin; Vyletal, Petr; Bitar, Ibrahim; Stranecky, Viktor; Steiner-Mrazova, Lenka; Treslova, Helena; Sovova, Jana; Hodanova, Katerina; Hartmannova, Hana; Musalkova, Dita; Svojsova, Klara; Kmochova, Tereza; Baresova, Veronika; Bleyer, Heidi; Taylor, Abby; Martin, Lauren; Sanchez, Antonio; Rysava, Romana; Lajtmanova, Innet; Rajnochova-Bloudickova, Silvie; Viklicky, Ondrej; Papagregoriou, Gregory; Deltas, Constantinos; Stavrou, Christoforos; Jorge, Sofia; Lopes, Jose Antonio; Rodrigues, Marcia; Elhassan, Elhussein; Clince, Michelle; Rowan, Colm; Conlon, Peter; Teltsh, Omri; Cavalleri, Gianpiero L.; Blumenstiel, Brendan; Toledo, Diana; DiStefano, Marina; DeFelice, Matthew; Zivna, Martina; Bleyer, Anthony J.; Kmoch, Stanislav 分享 收藏
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Genetic testing outcomes: insights from a decade of experience at a single center 基因检测结果：来自单一中心十年经验的见解 Pais, Telma; Jesus, Ana Patricia; Rodrigues, Marcia; Chiodo, Yuri; Silveira, Catarina; de Almeida, Jose; Fonseca, Agapito; Goncalves, Sara; Lopes, Jose Antonio; Jorge, Sofia 分享 收藏
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV 将ARSG突变与Usher综合征IV型联系起来的新临床和分子证据 Peter, Virginie G.; Quinodoz, Mathieu; Sadio, Silvia; Held, Sebastian; Rodrigues, Marcia; Soares, Marta; Sousa, Ana Berta; Coutinho Santos, Luisa; Damme, Markus; Rivolta, Carlo 分享 收藏
Urinary Tract Effects of HPSE2 Mutations Stuart, Helen M.; Roberts, Neil A.; Hilton, Emma N.; McKenzie, Edward A.; Daly, Sarah B.; Hadfield, Kristen D.; Rahal, Jeffery S.; Gardiner, Natalie J.; Tanley, Simon W.; Lewis, Malcolm A.; Sites, Emily; Angle, Brad; Alves, Claudia; Lourenco, Teresa; Rodrigues, Marcia; Calado, Angelina; Amado, Marta; Guerreiro, Nancy; Serras, Ines; Beetz, Christian; Varga, Rita-Eva; Silay, Mesrur Selcuk; Darlow, John M.; Dobson, Mark G.; Barton, David E.; Hunziker, Manuela; Puri, Prem; Feather, Sally A.; Goodship, Judith A.; Goodship, Timothy H. J.; Lambert, Heather J.; Cordell, Heather J.; Saggar, Anand; Kinali, Maria; Lorenz, Christian; Moeller, Kristina; Schaefer, Franz; Bayazit, Aysun K.; Weber, Stefanie; Newman, William G.; Woolf, Adrian S. 分享 收藏
Deletion of the 5′exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome Nabais Sa, Maria Joao; Fieremans, Nathalie; de Brouwer, Arjan P. M.; Sousa, Rita; Teixeira e Costa, Fernando; Brito, Maria Jose; Carvalho, Fernanda; Rodrigues, Marcia; de Sousa, Francisco Teixeira; Felgueiras, Joana; Neves, Fernando; Carvalho, Adelino; Ramos, Umbelina; Vizcaino, Jose Ramon; Alves, Susana; Carvalho, Filipa; Froyen, Guy; Oliveira, Joao Paulo 分享 收藏
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