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6. Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

8. Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

9. Functional characterization of the CFTR R domain using CFTR/MDR1 hybrid and deletion constructs

10. Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease

20. Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association

21. Hypofertility in adult patients with primary ciliary dyskinesia

23. Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

25. Immunofluorescence analysis and diagnosis of primary ciliary dyskinesia with radial spoke defects

26. Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.

27. MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

28. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

29. Functional interaction between TRP4 and CFTR in mouse aorta endothelial cells

30. Mutations in the Amiloride-Sensitive Epithelial Sodium Channel in Patients With Cystic Fibrosis-Like Disease

31. Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure

33. Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children

35. Immuno fluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.

37. Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.

39. Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence

47. Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms.

49. Functional interaction between TRP4 and CFTR in mouse aorta endothelial cells.

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