50 results on '"Sosnay, Patrick R."'
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2. Safety and efficacy of vanzacaftor–tezacaftor–deutivacaftor in adults with cystic fibrosis: randomised, double-blind, controlled, phase 2 trials
3. Development of the Cystic Fibrosis Questionnaire-Revised-8 Dimensions: Estimating Utilities From the Cystic Fibrosis Questionnaire-Revised
4. Safety and efficacy of vanzacaftor–tezacaftor–deutivacaftor in adults with cystic fibrosis: randomised, double-blind, controlled, phase 2 trials
5. Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children
6. Benign outcome among positive cystic fibrosis newborn screen children with non-CF-causing variants
7. Development of the Cystic Fibrosis Questionnaire-Revised-8 Dimensions: Estimating Utilities From the Cystic Fibrosis Questionnaire-Revised
8. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation
9. Diagnosis of Cystic Fibrosis in Nonscreened Populations
10. Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses
11. MERGING MOLECULAR PATHOLOGIES WITH MECHANISMS OF DRUG ACTION: S17.1
12. CFTR GENETIC DIVERSITY; ONGOING EFFORTS TO ANNOTATE CF-CAUSING VARIANTS: IMPLICATIONS OF CFTR2 ON THERAPY: S16.1
13. Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity
14. Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions
15. Interpretation of genetic variants
16. CFTR2 GENETICS, FUNCTIONAL ANALYSIS, AND IMPLICATION ON FUTURE THERAPIES: S10.3
17. Transparency and diversity in cystic fibrosis research - Authors' reply
18. Reviewers
19. Evaluation of the Disease Liability of CFTR Variants
20. Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis
21. UPDATE OF CFTR2: HOW GENETIC TESTING CAN IMPACT OUR CF SCREENING ALGORITHMS: S5.4
22. Transparency and diversity in cystic fibrosis research – Authors' reply
23. Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial
24. Hypothyroid-Induced Hyporeflexia
25. Sweat test for cystic fibrosis: Wearable sweat sensor vs. standard laboratory test
26. Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis
27. Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis
28. Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients
29. Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity
30. Design, Implementation, and Evaluation of a Simulation-Based Clinical Correlation Curriculum as an Adjunctive Pedagogy in an Anatomy Course
31. A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction
32. Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis
33. Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508delmutation: a double-blind, randomised, phase 3 trial
34. Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator
35. Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California
36. Bias in CFTR screening panels
37. Challenges in Cystic Fibrosis Newborn Screening and Recommendations for Primary Care Physicians
38. The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis
39. Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity
40. Interpretation of genetic variants
41. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
42. Chronic Macrolide Therapy Reduces Hospitalizations In Individuals With Cystic Fibrosis Colonized With Pseudomonas Aeruginosa
43. Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients
44. Swelling and Weakness
45. Overexpression of the R2 Subunit of Ribonucleotide Reductase in Human Nasopharyngeal Cancer Cells Reduces Radiosensitivity
46. Overexpression of the R[sub2] Subunit of Ribonucleotide Reductase in Human Nasopharyngeal Cancer Cells Reduces Radiosensitivity.
47. Reviewers
48. A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction.
49. Evaluation of the disease liability of CFTR variants.
50. Images in clinical medicine. Hypothyroid-induced hyporeflexia.
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