Published in Pediatr Pulmonol on May 01, 2008
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Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. Am J Hum Genet (2013) 1.90
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Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet (2012) 1.65
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Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet (2012) 1.53
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Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. Genet Med (2011) 1.42
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat (2013) 1.31
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ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet (2013) 1.24
Bronchoalveolar lavage fluid surfactant protein-A and surfactant protein-D are inversely related to inflammation in early cystic fibrosis. Am J Respir Crit Care Med (2003) 1.22
Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience. Pediatr Pulmonol (2011) 1.22
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet (2013) 1.19
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Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med (2014) 1.14
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Investigation of the possible role of a novel gene, DPCD, in primary ciliary dyskinesia. Am J Respir Cell Mol Biol (2003) 1.05
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Safety and tolerability of inhaled hypertonic saline in young children with cystic fibrosis. Pediatr Pulmonol (2008) 0.95
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Primary ciliary dyskinesia in Amish communities. J Pediatr (2010) 0.92
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Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. Hum Mutat (2013) 0.89
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ACR Appropriateness Criteria on developmental dysplasia of the hip--child. J Am Coll Radiol (2009) 0.86
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Cutting edge genetic studies in primary ciliary dyskinesia. Thorax (2012) 0.80
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Plain films in the evaluation of batteries as esophageal foreign bodies. Int J Pediatr Otorhinolaryngol (2008) 0.79
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Comparison of endoscopic versus 3D CT derived airway measurements. Laryngoscope (2013) 0.77
A new tool improves diagnostic test performance for transmission em evaluation of axonemal dynein arms. Ultrastruct Pathol (2013) 0.77
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Novel outcome measures for clinical trials in cystic fibrosis. Pediatr Pulmonol (2014) 0.75
A 2-year-old girl with co-inherited cystic fibrosis and sickle cell-β+ thalassemia presenting with recurrent vaso-occlusive events during cystic fibrosis pulmonary exacerbations: a case report. J Med Case Rep (2013) 0.75
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Vaccine induced Hepatitis A and B protection in children at risk for cystic fibrosis associated liver disease. Vaccine (2012) 0.75
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Spirometry in biracial children: how adequate are race-based reference equations? Arch Pediatr Adolesc Med (2011) 0.75
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