未登录The international registry for primary ciliary dyskinesia reveals regional variation of genotypes and significant genotype-phenotype correlations国际原发性纤毛运动障碍登记处揭示了基因型的区域差异和显着的基因型-表型相关性
Raidt, Johanna; Riepenhausen, Sarah; Amirav, Israel; Athanazio, Rodrigo A.; Aviram, Micha; Balinotti, Juan E.; Bar-On, Ophir; Bode, Sebastian Fn; Boon, Mieke; Borrelli, Melissa; Carr, Siobhan B.; Crowley, Suzanne; Dehlink, Eleonora; Diepenhorst, Sandra; Durdik, Peter; Dworniczak, Bernd; Emiralioglu, Nagehan; Erdem, Ela; Fonnesu, Rossella; Gracci, Serena; Grosse-Onnebrink, Joerg; Gwozdziewicz, Karolina; Haarman, Eric G.; Hansen, Christine R.; Hogg, Claire; Holgersen, Mathias G.; Julian, Varghese; Kerem, Eitan; Korner, Robert W.; Kotz, Karsten; Kouis, Panayiotis; Loebinger, Michael R.; Lorent, Natalie; Lucas, Jane S.; Maj, Debora; Mall, Marcus A.; Marthin, June K.; Martinu, Vendula; Mazurek, Henryk; Mitchison, Hannah M.; Noethe-Menchen, Tabea; Olbrich, Heike; Ozcelik, Ugur; Pennekamp, Petra; Pifferi, Massimo; Pogorzelski, Andrzej; Ringshausen, Felix C.; Roehmel, Jobst F.; Rovira-Amigo, Sandra; Rumman, Nisreen; Schlegtendal, Anne; Shoemark, Amelia; Kennelly, Synne Sperstad; Staar, Ben; Sutharsan, Sivagurunathan; Thomas, Simon; Ullmann, Nicola; Von Hardenberg, Sandra; Walker, Woolf; Wetzke, Martin; Witt, Michal; Yiallouros, Panayiotis; Zietkiewicz, Ewa; Nielsen, Kim G.; Omran, Heymut .png)
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收藏Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration.Crowley, Suzanne; Hankey, William; Elnagheeb, Marwa; Mani, Rahma; Benito, Maria-Ines; Soliman, Rasha; Gomes, Mafalda De Almeida; Ing, Alexander; Abdelwahab, Sabri; Worley, Lindsay; Mcnulty, Shannon; Siew, Justine; Thaxton, Courtney Lynn; Loucks, Catrina M.; Thomas, Simon; Zariwala, Maimoona; Leigh, Margaret; Morris-Rosendahl, Deborah; Zietkiewicz, Ewa; Dell, Sharon; Gaston, Ben; Dworniczak, Bernd; Hirst, Robert; Raidt, Johanna; Nykamp, Keith; Hannah, William; Fassad, Mahmoud; Shoemark, Amelia; Legendre, Marie; Mitchison, Hannah 分享 收藏 分享 收藏 分享 收藏 Lung growth in children and young adults with primary ciliary dyskinesia (PCD): An iPCD cohort studyHalbeisen, Florian; Goutaki, Myrofora; Maurer, Elisabeth; Casaulta, Carmen; Crowley, Suzanne; Haarman, Eric; Lucas, Jane; Morgan, Lucy; Nielsen, Kim; Santamaria, Francesca; Schwerk, Nico; Thouvenin, Guillaume; Yiallouros, Panayiotis; Zivkovic, Zorica; Ramette, Alban; Latzin, Philipp; Kuehni, Claudia 分享 收藏 LATE-BREAKING ABSTRACT: Lung function in patients with primary ciliary dyskinesia (PCD): A multinational studyHalbeisen, Florian; Goutaki, Myrofora; Maurer, Elisabeth; Boon, Mieke; Casaulta, Carmen; Clement, Annick; Crowley, Suzanne; Haarman, Eric G.; Karadag, Bulent; Koerner-Rettberg, Cordula; Mazurek, Henryk; Morgan, Lucy; Nielsen, Kim G.; Santamaria, Francesca; Schwerk, Nicolaus; Yiallouros, Panayiotis; Latzin, Philipp; Lucas, Jane S.; Kuehni, Claudia E. 分享 收藏 
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