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1. A conceptual framework to develop a patient-reported experience questionnaire on the cystic fibrosis journey in France: the ExPaParM collaborative study

2. Collaborative research protocol to define patient-reported experience measures of the cystic fibrosis care pathway in France: the ExPaParM study

3. Generating revenue from non-profitable targets. Successful Implementation of HiWAY & TSO fracture techniques in Shushufindi Field

6. High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with FGFR3-Related Skeletal Dysplasias

7. Human Papilloma Virus Vaccination Among Female Patients Attending French Pediatric Cystic Fibrosis Centers

9. New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly

10. Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start

11. Apolipoprotein B, Residual Cardiovascular Risk After Acute Coronary Syndrome, and Effects of Alirocumab

12. High-Resolution Melting Analysis for Rapid Detection of Mutations in Patients with

13. A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease

14. Lipoprotein(a) and Benefit of PCSK9 Inhibition in Patients With Nominally Controlled LDL Cholesterol

15. Dépistage néonatal de la mucoviscidose en France : aspects pratiques et perspectives

16. Critères de qualité pour la transition dans la mucoviscidose en France (suivi des adolescents, des familles et des équipes, pour une transition idéale en mucoviscidose – analyse des pratiques professionnelles)

17. Clinical and Technological Dependence Characteristics on a Series of Brazilian Cases with Infantile Onset Pompe Disease in Enzyme Replacement Therapy

18. Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome

19. [How can the transition of adolescents from a children's to an adult CF center be improved? Analysis of adolescents' and parents' needs during the post-transfer period]

20. Smoothing the transition of adolescents with CF from pediatric to adult care: Pre-transfer needs

21. miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes

22. Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia

23. Fetal Skeletal Lethal Dysplasia: Case Report Displasia Esquelética Letal Fetal: Relato de Caso

24. Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up

25. Motor Development as a Potential Marker to Monitor Infantile Pompe Disease on Enzyme Replacement Therapy

26. A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients

27. Effects of alirocumab on cardiovascular and metabolic outcomes after acute coronary syndrome in patients with or without diabetes: a prespecified analysis of the ODYSSEY OUTCOMES randomised controlled trial

28. Effects of alirocumab on types of myocardial infarction : insights from the ODYSSEY OUTCOMES trial

30. Differences in topographic and soil habitat specialization between trees and two understorey plant groups in a Costa Rican lowland rain forest

32. P043 Explore patient experience of care and of life with cystic fibrosis in order to determine measures that matter to patients and parents: the ExPaParM study

34. Early enzyme replacement therapy in a CRIM positive classic infantile Pompe patient: 11-year follow-up of a still progressive disease

35. A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability

36. [Quality criteria for the transition to adult care in French CF centers - results from the SAFETIM APP study?]

37. Glucose trajectories in cystic fibrosis and their association with pulmonary function

38. Alirocumab and Cardiovascular Outcomes after Acute Coronary Syndrome

39. Novel and Recurrent Mutations in the

40. Identification of familial clustering for cancer through the family health strategy program in the municipality of Angra dos Reis, Rio de Janeiro, Brazil

41. Recommandations nationales pour la prise en charge du nourrisson dépisté atteint de mucoviscidose. Consensus de la fédération des centres de ressources et de compétences de la mucoviscidose

42. Molecular analysis of holoprosencephaly in South America

44. Clinical and Treatment Management Decisions in Two Asymptomatic Late-Onset Pompe Disease Siblings - Further Evidence of Scoliosis as a Clinical Sentinel Sign for Juvenile Pompe Disease

45. P273 Human papilloma virus vaccination among female patients attending the Auvergne-Rhône Alpes paediatric cystic fibrosis centres

46. Impact d’un coaching sur le niveau d’activité physique des patients atteints de mucoviscidose

47. Impact of time from diagnosis to treatment on lung function among patients with late-onset Pompe disease: Data from the Pompe registry

48. Inherited Cryptic Translocation t(12;17)(q24.3;p13.3) Causing Recurrence of Miller-Dieker Syndrome

49. Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI

50. L’asthme de la femme au fil du temps : l’adolescence

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