481 results on '"Legendre, Marie"'
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2. Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis
3. Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy
4. Pharmacological options in the treatment of osteogenesis imperfecta: A comprehensive review of clinical and potential alternatives
5. Unraveling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49
6. Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients
7. Cyclin O controls entry into the cell-cycle variant required for multiciliated cell differentiation
8. NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations
9. Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria
10. Interstitial lung diseases in the neonatal period
11. Effects of Using Historical Microworlds on Conceptual Change: A P-Prim Analysis
12. L’élaboration d’une grille d’observation des comportements de communication non verbale d’enfants ayant une déficience intellectuelle et formation des intervenants
13. Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults.
14. The significance of multidisciplinary team meetings in diagnosing and managing childhood interstitial lung disease within the RespiRare network
15. Changing the Narrative through Mothers, Daughters, and Sons
16. Aspects of Umayyad Administration 1
17. Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male with Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation
18. WT SP-A restores abnormal oligomerization and secretion of mutant SFTPA1 and SFTPA2
19. Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration.
20. The value of multidisciplinary team meetings in the diagnosis and management of childhood interstitial lung disease among the RespiRare network
21. Acinar dysplasia in a full term newborn with a NKX2.1 variation
22. Phenotypic characterization of interstitial lung disease associated with mutations in SFTPC and ABCA3 in adults
23. Efficacity and safety of CFTR modulators in patients with interstitial lung disease caused by ABCA3 transporter deficiency
24. Phenotype-genotype correlations of pediatric patients with biallelic mutations in ABCA3 and SFTPB surfactant-related genes
25. Hypomorphic mutation in SFTPB leads to adult pulmonary fibrosis
26. Lung biopsies in infants and children in critical care situation
27. Preface
28. Association d’une maladie de Verneuil à une fièvre méditerranéenne familiale : 6 cas
29. The significance of multidisciplinary team meetings in diagnosing and managing childhood interstitial lung disease within the RespiRare network.
30. Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant.
31. Chest Wall Deformities in Adults With Fibrotic Interstitial Lung Disease Related to Surfactant-Related Gene Mutations
32. NKX2.1mutation revealed by a lymphoid interstitial pneumonia in an adult with rheumatoid arthritis
33. Epidemiology of childhood interstitial lung disease in France: the RespiRare cohort
34. Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia
35. Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis
36. Outcome of lung transplantation for adults with interstitial lung disease associated with genetic disorders of the surfactant system.
37. TUBB4Bvariants specifically impact ciliary function, causing a ciliopathic spectrum
38. Lignées féminines et dynamiques Égypte-Syrie-Iraq au début de l’époque marwanide
39. High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia
40. A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia
41. Female genealogies and regional dynamics (Egypt-Syria-Iraq) at the beginning of the Marwanid era:Concerning the recent publication of: MABRA Joshua, 2017, Princely authority in the early Marwānid state: The life of ʻAbd al-ʻAzīz ibn Marwān (d. 86/705), Piscataway, NJ, Gorgias Press
42. Lignées féminines et dynamiques Égypte-Syrie-Iraq au début de l’époque marwanide
43. Introduction
44. Otological Manifestations in Adults with Primary Ciliary Dyskinesia: A Controlled Radio-Clinical Study
45. Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study
46. Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients
47. Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome
48. Premières mutations homozygotes de SFTPB associées à des formes viables à l’âge adulte de fibrose pulmonaire
49. TTC12 loss-of-function mutations cause primary ciliary dyskinesia and unveil distinct dynein assemblymechanisms in motile cilia versus flagella
50. uORF-creating mutations in Van der Woude syndrome: why it is important to study 5’UTRs
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