共 24 条
- [1] ASKEW K, 2017, CLIN MED
- [2] BESTCILIA consortium, 2020, PCD REG
- [3] CATANEO D, 2010, ACTA CIR BRAS
- [4] Post-splenectomy and hyposplenic states[J]. LANCET, 2011, 378 (9785) : 86 - 97Di Sabatino, Antonio论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Med Clin, Fdn IRCCS Policlin S Matteo, Dept Med 1, I-27100 Pavia, Italy Univ Pavia, Med Clin, Fdn IRCCS Policlin S Matteo, Dept Med 1, I-27100 Pavia, ItalyCarsetti, Rita论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Cell Dev Lab B, Rome, Italy Univ Pavia, Med Clin, Fdn IRCCS Policlin S Matteo, Dept Med 1, I-27100 Pavia, ItalyCorazza, Gino Roberto论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Med Clin, Fdn IRCCS Policlin S Matteo, Dept Med 1, I-27100 Pavia, Italy Univ Pavia, Med Clin, Fdn IRCCS Policlin S Matteo, Dept Med 1, I-27100 Pavia, Italy
- [5] Findorff J., 2016, BERLINER TRANSITIONS, DOI [10.1515/9783110432619, DOI 10.1515/9783110432619]
- [6] The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia[J]. MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (09):Hannah, William B.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cleveland, Med Ctr, Ctr Human Genet, Cleveland, OH 44106 USA Univ Hosp Cleveland, Med Ctr, Dept Internal Med, Cleveland, OH 44106 USA Univ Hosp Cleveland, Med Ctr, Dept Genet & Genome Sci, Cleveland, OH 44106 USA Univ Hosp Cleveland, Med Ctr, Ctr Human Genet, Cleveland, OH 44106 USADeBrosse, Suzanne论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cleveland, Med Ctr, Ctr Human Genet, Cleveland, OH 44106 USA Univ Hosp Cleveland, Med Ctr, Dept Genet & Genome Sci, Cleveland, OH 44106 USA Univ Hosp Cleveland, Med Ctr, Ctr Human Genet, Cleveland, OH 44106 USAKinghorn, BreAnna论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Dept Pediat, Seattle, WA 98195 USA Univ Hosp Cleveland, Med Ctr, Ctr Human Genet, Cleveland, OH 44106 USAStrausbaugh, Steven论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cleveland, Med Ctr, Dept Internal Med, Cleveland, OH 44106 USA Univ Hosp Cleveland, Med Ctr, Dept Pediat, Cleveland, OH 44106 USA Univ Hosp Cleveland, Med Ctr, Ctr Human Genet, Cleveland, OH 44106 USAAitken, Moira L.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Med, Seattle, WA USA Univ Hosp Cleveland, Med Ctr, Ctr Human Genet, Cleveland, OH 44106 USA论文数: 引用数: h-index:机构:Wolf, Whitney E.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Eshelman Sch Pharm, Dept Pharmacoengn & Mol Pharmaceut, Chapel Hill, NC 27599 USA Univ Hosp Cleveland, Med Ctr, Ctr Human Genet, Cleveland, OH 44106 USAKnowles, Michael R.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Marsico Lung Inst, Dept Med, Chapel Hill, NC 27599 USA Univ Hosp Cleveland, Med Ctr, Ctr Human Genet, Cleveland, OH 44106 USAZariwala, Maimoona A.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Marsico Lung Inst, Dept Pathol & Lab Med, 7219 A Marsico Hall, Chapel Hill, NC 27599 USA Univ Hosp Cleveland, Med Ctr, Ctr Human Genet, Cleveland, OH 44106 USA
- [7] Kartagener Syndrom und Prim?re Cili?re Dyskinesie, 2019, WEBPR
- [8] Hypertonic saline in patients with primary ciliary dyskinesia: on the road to evidence-based treatment for a rare lung disease[J]. EUROPEAN RESPIRATORY JOURNAL, 2017, 49 (02)Kuehni, Claudia E.论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Inst Social & Prevent Med, Finkenhubelweg 11, CH-3012 Bern, Switzerland Univ Bern, Childrens Univ Hosp Bern, Paediat Resp Med, CH-3012 Bern, Switzerland Univ Bern, Inst Social & Prevent Med, Finkenhubelweg 11, CH-3012 Bern, SwitzerlandGoutaki, Myrofora论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Inst Social & Prevent Med, Finkenhubelweg 11, CH-3012 Bern, Switzerland Univ Bern, Childrens Univ Hosp Bern, Paediat Resp Med, CH-3012 Bern, Switzerland Univ Bern, Inst Social & Prevent Med, Finkenhubelweg 11, CH-3012 Bern, SwitzerlandKobbernagel, Helene E.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen Hosp, Danish Paediat Pulm Serv, Rigshosp, Copenhagen, Denmark Univ Bern, Inst Social & Prevent Med, Finkenhubelweg 11, CH-3012 Bern, Switzerland
- [9] Primary ciliary dyskinesia: the patients grow up[J]. EUROPEAN RESPIRATORY JOURNAL, 2016, 48 (02) : 297 - 300Kuehni, Claudia E.论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Inst Social & Prevent Med, Finkenhubelweg 11, CH-3012 Bern, Switzerland Univ Bern, Inst Social & Prevent Med, Finkenhubelweg 11, CH-3012 Bern, SwitzerlandGoutaki, Myrofora论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Inst Social & Prevent Med, Finkenhubelweg 11, CH-3012 Bern, Switzerland Univ Bern, Childrens Univ Hosp Bern, Paediat Resp Med, Bern, Switzerland Univ Bern, Inst Social & Prevent Med, Finkenhubelweg 11, CH-3012 Bern, SwitzerlandCarroll, Mary论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, England Univ Southampton, NIHR Southampton Resp Biomed Res Unit, Southampton, Hants, England Univ Hosp Southampton NHS Fdn Trust, Southampton, Hants, England Univ Bern, Inst Social & Prevent Med, Finkenhubelweg 11, CH-3012 Bern, SwitzerlandLucas, Jane S.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, England Univ Southampton, NIHR Southampton Resp Biomed Res Unit, Southampton, Hants, England Univ Hosp Southampton NHS Fdn Trust, Southampton, Hants, England Univ Bern, Inst Social & Prevent Med, Finkenhubelweg 11, CH-3012 Bern, Switzerland
- [10] European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia[J]. EUROPEAN RESPIRATORY JOURNAL, 2017, 49 (01)Lucas, Jane S.论文数: 0 引用数: 0 h-index: 0机构: Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, England Univ Southampton, Fac Med, Acad Unit Clin & Expt Med, Southampton, Hants, England Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandBarbato, Angelo论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Woman & Child Hlth SDB, Primary Ciliary Dyskinesia Ctr, Padua, Italy Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandCollins, Samuel A.论文数: 0 引用数: 0 h-index: 0机构: Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, England Univ Southampton, Fac Med, Acad Unit Clin & Expt Med, Southampton, Hants, England Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandGoutaki, Myrofora论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Inst Social & Prevent Med, Bern, Switzerland Univ Bern, Univ Hosp Bern, Inselspital, Dept Paediat, Bern, Switzerland Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandBehan, Laura论文数: 0 引用数: 0 h-index: 0机构: Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, England Univ Southampton, Fac Med, Acad Unit Clin & Expt Med, Southampton, Hants, England Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandCaudri, Daan论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Telethon Kids Inst, Subiaco, WA, Australia Erasmus Univ, Dept Pediat Resp Med, Rotterdam, Netherlands Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandDell, Sharon论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Med Res, Toronto, ON, Canada Univ Toronto, Dept Pediat, Toronto, ON, Canada Univ Toronto, Inst Hlth Policy Management & Evaluat, Toronto, ON, Canada Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandEber, Ernst论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Dept Paediat & Adolescent Med, Div Paediat Pulmonol & Allergol, Graz, Austria Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandEscudier, Estelle论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, AP HP, Ctr Reference Malad Respiratoires Rares, Serv Genet & Embryol Med, Paris, France UPMC Univ Paris 06, Sorbonne Univ, INSERM, UMR S933, Paris, France Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandHirst, Robert A.论文数: 0 引用数: 0 h-index: 0机构: Univ Leicester, Leicester Royal Infirm, Dept Infect Immun & Inflammat, Ctr PCD Diag & Res, Leicester, Leics, England Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandHogg, Claire论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll, Dept Paediat, London, England Imperial Coll, Depts Paediat Resp Med, London, England Royal Brompton Hosp, London, England Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandJorissen, Mark论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, ENT Dept, Leuven, Belgium Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandLatzin, Philipp论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Univ Hosp Bern, Inselspital, Dept Paediat, Bern, Switzerland Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandLegendre, Marie论文数: 0 引用数: 0 h-index: 0机构: Hop Armand Trousseau, AP HP, Ctr Reference Malad Respiratoires Rares, Serv Genet & Embryol Med, Paris, France UPMC Univ Paris 06, Sorbonne Univ, INSERM, UMR S933, Paris, France Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandLeigh, Margaret W.论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Chapel Hill, NC USA Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandMidulla, Fabio论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ Rome, Dept Paediat, Rome, Italy Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandNielsen, Kim G.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Rigshosp, Dept Paediat & Adolescent Med, Danish PCD & chILD Ctr,CF Ctr Copenhagen Paediat, Copenhagen, Denmark Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandOmran, Heymut论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Muenster, Dept Pediat, Munster, Germany Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandPapon, Jean-Francois论文数: 0 引用数: 0 h-index: 0机构: Hop Kremlin Bicetre, AP HP, Serv ORL & Chirurg Cervico Faciale, Le Kremlin Bicetre, France Univ Paris Sud, Fac Med, Le Kremlin Bicetre, France Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandPohunek, Petr论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Med 2, Dept Paediat, Prague, Czech Republic Motol Univ Hosp, Prague, Czech Republic Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandRedfern, Beatrice论文数: 0 引用数: 0 h-index: 0机构: PCD Family Support Grp, Milton Keynes, Bucks, England Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandRigau, David论文数: 0 引用数: 0 h-index: 0机构: Iberoamerican Cochrane Ctr, Barcelona, Spain Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandRindlisbacher, Bernhard论文数: 0 引用数: 0 h-index: 0机构: Kartagener Syndrom & Primare Ciliare Dyskines, Steffisburg, Switzerland Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, England论文数: 引用数: h-index:机构:Shoemark, Amelia论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll, Dept Paediat, London, England Imperial Coll, Depts Paediat Resp Med, London, England Royal Brompton Hosp, London, England Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandSnijders, Deborah论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Woman & Child Hlth SDB, Primary Ciliary Dyskinesia Ctr, Padua, Italy Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandTonia, Thomy论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Inst Social & Prevent Med, Bern, Switzerland Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandTitieni, Andrea论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Muenster, Dept Pediat, Munster, Germany Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandWalker, Woolf T.论文数: 0 引用数: 0 h-index: 0机构: Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, England Univ Southampton, Fac Med, Acad Unit Clin & Expt Med, Southampton, Hants, England Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandWerner, Claudius论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Muenster, Dept Pediat, Munster, Germany Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandBush, Andrew论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll, Dept Paediat, London, England Imperial Coll, Depts Paediat Resp Med, London, England Royal Brompton Hosp, London, England Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, EnglandKuehni, Claudia E.论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Inst Social & Prevent Med, Bern, Switzerland Southampton Univ Hosp NHS Fdn Trust, Primary Ciliary Dyskinesia Ctr, Southampton, Hants, England