537 results on '"Leigh, Margaret W."'
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2. Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial
3. Comparison of Longitudinal Outcomes in Children with Primary Ciliary Dyskinesia and Cystic Fibrosis.
4. A multi-disciplinary, comprehensive approach to management of children with heterotaxy
5. Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.
6. Burkholderia cepacia complex in primary ciliary dyskinesia.
7. Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia
8. Decoding negative genetic panels in primary ciliary dyskinesia
9. Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia
10. RCT Abstract - Safety and efficacy of idrevloride in people with primary ciliary dyskinesia: a double-blind, randomized, placebo-controlled crossover trial (CLEAN-PCD)
11. Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial
12. Motile ciliopathies
13. Decoding negative genetic panels in primary ciliary dyskinesia.
14. Nasal Nitric Oxide and Ciliary Videomicroscopy: Tests Used for Diagnosing Primary Ciliary Dyskinesia
15. Primary Ciliary Dyskinesia
16. Contributors
17. Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype
18. Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype
19. Airway Inflammation in Children with Primary Ciliary Dyskinesia
20. HYDINVariants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians
21. Association of Neonatal Hospital Length of Stay with Lung Function in Primary Ciliary Dyskinesia
22. Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia: Insights Into Situs Ambiguus and Heterotaxy
23. Primary Ciliary Dyskinesia
24. TUBB4Bvariants specifically impact ciliary function, causing a ciliopathic spectrum
25. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
26. Primary Ciliary Dyskinesia-Causing Mutations in Amish and Mennonite Communities
27. Vaccine induced Hepatitis A and B protection in children at risk for cystic fibrosis associated liver disease
28. Validation of a health-related quality of life instrument for primary ciliary dyskinesia (QOL-PCD)
29. Ciliopathies: The Central Role of Cilia in a Spectrum of Pediatric Disorders
30. Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing
31. Going beyond the chest X‐ray: Investigating laterality defects in primary ciliary dyskinesia
32. The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia
33. Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype
34. Additional file 1 of A multi-disciplinary, comprehensive approach to management of children with heterotaxy
35. Cystic fibrosis airway secretions exhibit mucin hyperconcentration and increased osmotic pressure
36. Clinical approach to endogenous lipoid pneumonia
37. Endogenous lipoid pneumonia preceding diagnosis of pulmonary alveolar proteinosis
38. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review
39. Primary Ciliary Dyskinesia in Amish Communities
40. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
41. Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype
42. HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians.
43. Nasal Nitric Oxide and Ciliary Videomicroscopy: Tests Used for Diagnosing Primary Ciliary Dyskinesia
44. Use caution interpreting nasal nitric oxide: Overlap in primary ciliary dyskinesia and primary immunodeficiency
45. Nasal and Bronchoalveolar Lavage Fluid Cytokines in Early Cystic Fibrosis
46. Manifold Embryonic Ciliary Functions in the Genesis of Kartagener Syndrome and Heterotaxy
47. Cri du Chat Syndrome and Primary Ciliary Dyskinesia: A Common Genetic Cause on Chromosome 5p
48. Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype
49. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects
50. Otolaryngology Manifestations of Primary Ciliary Dyskinesia: A Multicenter Study
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