Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease
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Title
Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease
Authors
Keywords
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Journal
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
Volume 188, Issue 8, Pages 913-922
Publisher
American Thoracic Society
Online
2013-06-25
DOI
10.1164/rccm.201301-0059ci
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- (2012) Michael R. Knowles et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2012) Alexandros Onoufriadis et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Congenital heart disease and the specification of left-right asymmetry
- (2012) Richard J. B. Francis et al. AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
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- (2012) Claire L. Jackson et al. CHEST
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- (2012) Nader Nakhleh et al. CIRCULATION
- Impact of Genetic Diagnosis on Clinical Management of Patients With Congenital Heart Disease
- (2012) Martina Brueckner CIRCULATION
- Nitric oxide in primary ciliary dyskinesia
- (2012) Woolf T. Walker et al. EUROPEAN RESPIRATORY JOURNAL
- Mutations inCCDC39andCCDC40are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
- (2012) Dinu Antony et al. HUMAN MUTATION
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- (2012) Conroy Wong et al. LANCET
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- (2012) R. Masekela et al. MEDIATORS OF INFLAMMATION
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- (2012) Jennifer R Panizzi et al. NATURE GENETICS
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- Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study
- (2012) Jean-François Papon et al. Orphanet Journal of Rare Diseases
- A Periciliary Brush Promotes the Lung Health by Separating the Mucus Layer from Airway Epithelia
- (2012) B. Button et al. SCIENCE
- Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1
- (2011) Masha Mazor et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Managing upper respiratory tract complications of primary ciliary dyskinesia in children
- (2011) Raewyn Campbell Current Opinion in Allergy and Clinical Immunology
- Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required
- (2011) C. O'Callaghan et al. EUROPEAN RESPIRATORY JOURNAL
- Primary ciliary dyskinesia: evaluation using cilia beat frequency assessment via spectral analysis of digital microscopy images
- (2011) Mary A. K. Olm et al. JOURNAL OF APPLIED PHYSIOLOGY
- Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia
- (2011) A Shoemark et al. JOURNAL OF CLINICAL PATHOLOGY
- Diagnostic Value of Nasal Nitric Oxide Measured with Non-Velum Closure Techniques for Children with Primary Ciliary Dyskinesia
- (2011) Dimas Mateos-Corral et al. JOURNAL OF PEDIATRICS
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- (2011) Friedhelm Hildebrandt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Progression of lung disease in primary ciliary dyskinesia: Is spirometry less accurate than CT?
- (2011) Marco Maglione et al. PEDIATRIC PULMONOLOGY
- Nebulised 7% hypertonic saline improves lung function and quality of life in bronchiectasis
- (2011) Fiona Kellett et al. RESPIRATORY MEDICINE
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- (2011) Laura White et al. RESPIRATORY MEDICINE
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- (2011) SILVIA MONTELLA et al. RESPIROLOGY
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- (2011) Michael R Knowles et al. THORAX
- Ventilation inhomogeneity in children with primary ciliary dyskinesia
- (2011) Kent Green et al. THORAX
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- (2010) June K. Marthin et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
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- (2010) Robert A. Hirst et al. CHEST
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- (2010) C. E. Kuehni et al. EUROPEAN RESPIRATORY JOURNAL
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- (2009) C O'Callaghan et al. ARCHIVES OF DISEASE IN CHILDHOOD
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