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'e-Article'
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Eur Respir J
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Raidt, J, Riepenhausen, S, Pennekamp, P, Olbrich, H, Amirav, I, Athanazio, R A, Aviram, M, Balinotti, J E, Bar-On, O, Bode, S F N, Boon, M, Borrelli, M, Carr, S B, Crowley, S, Dehlink, E, Diepenhorst, S, Durdik, P, Dworniczak, B, Emiralioğlu, N, Erdem, E, Fonnesu, R, Gracci, S, Große-Onnebrink, J, Gwozdziewicz, K, Haarman, E G, Hansen, C R, Hogg, C, Holgersen, M G, Körner, E K R W, Kötz, K, Kouis, P, Loebinger, M R, Lorent, N, Lucas, J S, Maj, D, Mall, M A, Marthin, J K, Martinu, V, Mazurek, H, Mitchison, H M, Nöthe-Menchen, T, Özçelik, U, Pifferi, M, Pogorzelski, A, Ringshausen, F C, Roehmel, J F, Rovira-Amigo, S, Rumman, N, Schlegtendal, A, Shoemark, A, Kennelly, S S, Staar, B O, Sutharsan, S, Thomas, S, Ullmann, N, Varghese, J, von Hardenberg, S, Walker, W T, Wetzke, M, Witt, M, Yiallouros, P, Zschocke, A, Ziętkiewicz, E, Nielsen, K G & Omran, H 2024, ' Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations ', European Respiratory Journal, vol. 64, no. 2, 2301769 . https://doi.org/10.1183/13993003.01769-2023
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Raidt, J, Riepenhausen, S, Pennekamp, P, Olbrich, H, Amirav, I, Athanazio, R A, Aviram, M, Balinotti, J E, Bar-On, O, Bode, S F N, Boon, M, Borrelli, M, Carr, S B, Crowley, S, Dehlink, E, Diepenhorst, S, Durdik, P, Dworniczak, B, Emiralioğlu, N, Erdem, E, Fonnesu, R, Gracci, S, Große-Onnebrink, J, Gwozdziewicz, K, Haarman, E G, Hansen, C R, Hogg, C, Holgersen, M G, Körner, E K R W, Kötz, K, Kouis, P, Loebinger, M R, Lorent, N, Lucas, J S, Maj, D, Mall, M A, Marthin, J K, Martinu, V, Mazurek, H, Mitchison, H M, Nöthe-Menchen, T, Özçelik, U, Pifferi, M, Pogorzelski, A, Ringshausen, F C, Roehmel, J F, Rovira-Amigo, S, Rumman, N, Schlegtendal, A, Shoemark, A, Kennelly, S S, Staar, B O, Sutharsan, S, Thomas, S, Ullmann, N, Varghese, J, von Hardenberg, S, Walker, W T, Wetzke, M, Witt, M, Yiallouros, P, Zschocke, A, Ziętkiewicz, E, Nielsen, K G & Omran, H 2024, ' Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations ', European Respiratory Journal, vol. 64, no. 2, 2301769 . https://doi.org/10.1183/13993003.01769-2023
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Journal of Pediatrics, Perinatology and Child Health.
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK
Academic Journal
Veronika Kanderova; Tamara Svobodova; Simon Borna; Martina Fejtkova; Vendula Martinu; Jana Paderova; Michael Svaton; Jarmila Kralova; Eva Fronkova; Adam Klocperk; Stepanka Pruhova; Min Ae Lee-Kirsch; Ludmila Hornofova; Miroslav Koblizek; Petr Novak; Olga Zimmermannova; Zuzana Parackova; Anna Sediva; Tomas Kalina; Ales Janda; Jana Kayserova; Marcela Dvorakova; Milan Macek; Petr Pohunek; Petr Sedlacek; Ashleigh Poh; Matthias Ernst; Tomas Brdicka; Ondrej Hrusak; Jan Lebl
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Academic Journal
Myrofora Goutaki; Florian S. Halbeisen; Angelo Barbato; Suzanne Crowley; Amanda Harris; Robert A. Hirst; Bülent Karadag; Vendula Martinu; Lucy Morgan; Christopher O’Callaghan; Ugur Ozçelik; Sergio Scigliano; Santiago Ucros; Panayiotis Yiallouros; Sven M. Schulzke; Claudia E. Kuehni
J Clin Med
Journal of Clinical Medicine
Volume 9
Issue 9
Goutaki, Myrofora; Halbeisen, Florian Samuel; Barbato, Angelo; Crowley, Suzanne; Harris, Amanda; Hirst, Robert A; Karadag, Bülent; Martinu, Vendula; Morgan, Lucy; O'Callaghan, Christopher; Ozçelik, Ugur; Scigliano, Sergio; Ucros, Santiago; Yiallouros, Panayiotis; Schulzke, Sven M; Kuehni, Claudia E (2020). Late Diagnosis of Infants with PCD and Neonatal Respiratory Distress. Journal of clinical medicine, 9(9), E2871. MDPI 10.3390/jcm9092871
Journal of Clinical Medicine
Volume 9
Issue 9
Goutaki, Myrofora; Halbeisen, Florian Samuel; Barbato, Angelo; Crowley, Suzanne; Harris, Amanda; Hirst, Robert A; Karadag, Bülent; Martinu, Vendula; Morgan, Lucy; O'Callaghan, Christopher; Ozçelik, Ugur; Scigliano, Sergio; Ucros, Santiago; Yiallouros, Panayiotis; Schulzke, Sven M; Kuehni, Claudia E (2020). Late Diagnosis of Infants with PCD and Neonatal Respiratory Distress. Journal of clinical medicine, 9(9), E2871. MDPI 10.3390/jcm9092871
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