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收藏Epidemiology, Outcomes, and Complement Gene Variants in Secondary Thrombotic Microangiopathies
Werion, Alexis; Storms, Pauline; Zizi, Ysaline; Beguin, Claire; Bernards, Jelle; Cambier, Jean-Francois; Dahan, Karin; Dierickx, Daan; Godefroid, Nathalie; Hilbert, Pascale; Lambert, Catherine; Levtchenko, Elena; Meyskens, Thomas; Poire, Xavier; van den Heuvel, Lambert J.; Claes, Kathleen; Morelle, Johann; UCLouvain TMA HUS Network; KU Leuven TMA HUS Network 分享 收藏 Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria (vol 29, pg 1186, 2021)Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Zietkiewicz, Beata S. 分享 收藏 Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteriaSavige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; Al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Zietkiewicz, Beata S. 分享 收藏 Plasma C3d levels as a diagnostic marker for complete complement factor I deficiencyNaesens, Leslie; Smet, Julie; Tavernier, Simon J.; Schelstraete, Petra; Hoste, Levi; Lambrecht, Stijn; Verhelst, Helene; ten Bosch, Jutte van der Werff; Ferster, Alina; Blumental, Sophie; Hilbert, Pascale; Kerre, Tessa; Walle, Johan Vande; Licht, Christoph; Roumenina, Lubka T.; Stordeur, Patrick; Haerynck, Filomeen 分享 收藏 分享 收藏 High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults高通量测序有助于成人肾小管疾病和家族性高钙血症低钙尿症的诊断Hureaux, Marguerite; Ashton, Emma; Dahan, Karin; Houillier, Pascal; Blanchard, Anne; Cormier, Catherine; Koumakis, Eugenie; Iancu, Daniela; Belge, Hendrica; Hilbert, Pascale; Rotthier, Annelies; Del Favero, Jurgen; Schaefer, Franz; Kleta, Robert; Bockenhauer, Detlef; Jeunemaitre, Xavier; Devuyst, Olivier; Walsh, Stephen B.; Vargas-Poussou, Rosa 分享 收藏 GJB2 mutations and degree of hearing loss:: A multicenter studySnoeckx, RL; Huygen, PLM; Feldmann, D; Marlin, S; Denoyelle, F; Waligora, J; Mueller-Malesinska, M; Pollak, A; Ploski, R; Murgia, A; Orzan, E; Castorina, P; Ambrosetti, U; Nowakowska-Szyrwinska, E; Bal, J; Wiszniewski, W; Janecke, AR; Nekahm-Heis, DN; Seeman, P; Bendova, O; Kenna, MA; Frangulov, A; Rehm, HL; Tekin, M; Incesulu, A; Dahl, HHM; du Sart, D; Jenkins, L; Lucas, D; Glindzicz, MB; Avraham, KB; Brownstein, Z; del Castillo, I; Moreno, F; Blin, N; Pfister, M; Sziklai, I; Toth, T; Kelley, PM; Cohn, ES; Van Maldergem, L; Hilbert, P; Roux, AF; Mondain, M; Hoefsloot, LH; Cremers, CWRJ; Löppönen, T; Löppönen, H; Parving, A; Gronskov, K; Schrijver, I; Roberson, J; Gualandi, F; Martini, A; Lina-Granade, G; Pallares-Ruiz, N; Correia, C; Fialho, G; Cryns, K; Hilgert, N; Van de Heyning, P; Nishimura, CJ; Smith, RJH; Van Camp, G 分享 收藏 
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