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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Granulomatous interstitial nephritis and immunodeficiency-a link to remember 肉芽肿性间质性肾炎与免疫缺陷——一个需要记住的联系 Da Costa, Jose Oliveira; Marchao, Natalia; Pais, Telma; Godinho, Iolanda; Gameiro, Joana; Nogueira, Rui; Jorge, Sofia; Silva, Sara; Lopes, Jose Antonio; Nogueira, Estela 分享 收藏
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
Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies 基因型-表型相关性及遗传性TRPC6足细胞病变的临床结局 McAnallen, Susan M.; Elhassan, Elhussein A. E.; Stoneman, Sinead; Vairo, Filippo Pinto e; Hogan, Marie C.; Hoefele, Julia; Clince, Michelle; Mekraksakit, Poemlarp; Titan, Silvia M.; Jorge, Sofia; Calado, Joaquim; Decramer, Stephane; Colliou, Eloise; Tellier, Stephanie; Francisco, Telma; Servais, Aude; Cornet, Josephine; de Fallois, Jonathan; Dossier, Claire; Fenoglio, Roberta; Renieri, Alessandra; Pinto, Anna Maria; Daga, Sergio; Loberti, Lorenzo; Fila, Marc; Quintana, Luis F.; Becherucci, Francesca; Godefroid, Nathalie; Dubrasquet, Astrid; Kalman, Tory; Dolan, Niamh; Alawi, Bushra Al; Sweeney, Clodagh; Riordan, Michael; Stack, Maria; Awan, Atif; Hui, Ng Kar; McCarthy, Hugh J.; Biros, Erik; Harris, Trudie; Kidd, Kendrah; Haeberle, Stefanie; Bleyer, Anthony J.; Mallett, Andrew J.; Sayer, John A.; Schafer, Franz; Benson, Katherine A.; McCann, Emma; Conlon, Peter J. 分享 收藏
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD Jorge, Sofia; Kidd, Kendrah; Vylet'al, Petr; Nogueira, Estela; Martin, Lauren; Howard, Katrice; Baresova, Veronika; Hodanova, Katerina; Hnizda, Ales; Moldovan, Oana; Silveira, Catarina; Coutinho, Ana Margarida; Lopes, Jose Antonio; Bleyer, Anthony J.; Kmoch, Stanislav; Zivna, Martina 分享 收藏
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High-Dose Cyclophosphamide and Tacrolimus as Graft-versus-Host Disease Prophylaxis for Matched and Mismatched Unrelated Donor Transplantation 大剂量环磷酰胺和他克莫司预防匹配和不匹配的无关供体移植的移植物抗宿主病 Pedraza, Alexandra; Jorge, Sofia; Suarez-Lledo, Maria; Pereira, Arturo; Gutierrez-Garcia, Gonzalo; Fernandez-Aviles, Francesc; Rosinol, Laura; Llobet, Noemi; Solano, Teresa; Urbano-Ispizua, Alvaro; Rovira, Montserrat; Martinez, Carmen 分享 收藏
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Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations Kidd, Kendrah; Vylet'al, Petr; Schaeffer, Celine; Olinger, Eric; Zivna, Martina; Hodanova, Katerina; Robins, Victoria; Johnson, Emily; Taylor, Abbigail; Martin, Lauren; Izzi, Claudia; Jorge, Sofia C.; Calado, Joaquim; Torres, Rosa J.; Lhotta, Karl; Steubl, Dominik; Gale, Daniel P.; Gast, Christine; Gombos, Eva; Ainsworth, Hannah C.; Chen, Ying Maggie; Almeida, Jorge Reis; Souza, Cintia Fernandes de; Silveira, Catarina; Raposeiro, Rita; Weller, Nelson; Conlon, Peter J.; Murray, Susan L.; Benson, Katherine A.; Cavalleri, Gianpiero L.; Votruba, Miroslav; Vrbacka, Alena; Amoroso, Antonio; Gianchino, Daniela; Caridi, Gianluca; Ghiggeri, Gian Marco; Divers, Jasmin; Scolari, Francesco; Devuyst, Olivier; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J. 分享 收藏
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Obesity, acute kidney injury and mortality in patients with sepsis: a cohort analysis Gameiro, Joana; Goncalves, Miguel; Pereira, Marta; Rodrigues, Natacha; Godinho, Iolanda; Neves, Marta; Gouveia, Joao; Costa e Silva, Zelia; Jorge, Sofia; Lopes, Jose Antonio 分享 收藏
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Acute kidney injury, long-term renal function and mortality in patients undergoing major abdominal surgery: a cohort analysis Gameiro, Joana; Neves, Joana Briosa; Rodrigues, Natacha; Bekerman, Catarina; Melo, Maria Joao; Pereira, Marta; Teixeira, Catarina; Mendes, Ines; Jorge, Sofia; Rosa, Rosario; Lopes, Jose Antonio 分享 收藏
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