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5. HYDIN variants cause primary ciliary dyskinesia in the Finnish population. Burgoyne T; Fassad MR; Schultz R; Elenius V; Lim JSY; Freke G; Rai R; Mohammed MA; Mitchison HM; Sironen AI Pediatr Pulmonol; 2024 Sep; ():. PubMed ID: 39291810 [TBL] [Abstract][Full Text] [Related]
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8. [Primary ciliary dyskinesia with HYDIN gene mutations in a child and literature review]. Chen LL; Yang YG; Wu JZ; Chen XR Zhonghua Er Ke Za Zhi; 2017 Apr; 55(4):304-307. PubMed ID: 28441829 [No Abstract] [Full Text] [Related]
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10. Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype. Schultz R; Elenius V; Lukkarinen H; Saarela T BMC Med Genet; 2020 Nov; 21(1):237. PubMed ID: 33243178 [TBL] [Abstract][Full Text] [Related]
11. CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. Horani A; Brody SL; Ferkol TW; Shoseyov D; Wasserman MG; Ta-shma A; Wilson KS; Bayly PV; Amirav I; Cohen-Cymberknoh M; Dutcher SK; Elpeleg O; Kerem E PLoS One; 2013; 8(8):e72299. PubMed ID: 23991085 [TBL] [Abstract][Full Text] [Related]
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13. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Knowles MR; Ostrowski LE; Loges NT; Hurd T; Leigh MW; Huang L; Wolf WE; Carson JL; Hazucha MJ; Yin W; Davis SD; Dell SD; Ferkol TW; Sagel SD; Olivier KN; Jahnke C; Olbrich H; Werner C; Raidt J; Wallmeier J; Pennekamp P; Dougherty GW; Hjeij R; Gee HY; Otto EA; Halbritter J; Chaki M; Diaz KA; Braun DA; Porath JD; Schueler M; Baktai G; Griese M; Turner EH; Lewis AP; Bamshad MJ; Nickerson DA; Hildebrandt F; Shendure J; Omran H; Zariwala MA Am J Hum Genet; 2013 Oct; 93(4):711-20. PubMed ID: 24055112 [TBL] [Abstract][Full Text] [Related]
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20. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Knowles MR; Ostrowski LE; Leigh MW; Sears PR; Davis SD; Wolf WE; Hazucha MJ; Carson JL; Olivier KN; Sagel SD; Rosenfeld M; Ferkol TW; Dell SD; Milla CE; Randell SH; Yin W; Sannuti A; Metjian HM; Noone PG; Noone PJ; Olson CA; Patrone MV; Dang H; Lee HS; Hurd TW; Gee HY; Otto EA; Halbritter J; Kohl S; Kircher M; Krischer J; Bamshad MJ; Nickerson DA; Hildebrandt F; Shendure J; Zariwala MA Am J Respir Crit Care Med; 2014 Mar; 189(6):707-17. PubMed ID: 24568568 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]