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219 results on '"Scudieri P."'

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1. Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders

2. Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations

4. Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development

6. Novel tricyclic pyrrolo-quinolines as pharmacological correctors of the mutant CFTR chloride channel

7. Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation

8. Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

9. Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

10. Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

12. Airway surface hyperviscosity and defective mucociliary transport by IL-17/TNF-α are corrected by β-adrenergic stimulus

13. ATP12A Proton Pump as an Emerging Therapeutic Target in Cystic Fibrosis and Other Respiratory Diseases

15. Isolation, cultivation, and application of primary respiratory epithelial cells obtained by nasal brushing, polyp samples, or lung explants

16. A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome

18. Production and Characterization of Nano-tio2 Coatings on Aluminium Alloy Surfaces with Improved Anticorrosion Behaviour

19. Structured Recess: Finding a Way to Make It Work

20. mGlu3 metabotropic glutamate receptors as a target for the treatment of absence epilepsy: Preclinical and human genetics data

21. Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders

22. P2X7 Receptor Antagonist Reduces Fibrosis and Inflammation in a Mouse Model of Alpha-Sarcoglycan Muscular Dystrophy

23. SLC26A9 as a Potential Modifier and Therapeutic Target in Cystic Fibrosis Lung Disease

24. ABORDAJE PSICOSOCIAL DE LA IDENTIDAD JUDÍA EN JÓVENES DE UNA ESCUELA DE LA COLECTIVIDAD MASORTÍ DE CÓRDOBA, ARGENTINA

25. Light‐responsive microRNA miR‐211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance

26. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

27. GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

28. Corrigendum: Normal Calcium-Activated Anion Secretion in a Mouse Selectively Lacking TMEM16A in Intestinal Epithelium

29. Normal Calcium-Activated Anion Secretion in a Mouse Selectively Lacking TMEM16A in Intestinal Epithelium

30. Flower-like Auptpd-fe3o4 Nanocatalyst for Electrochemical Removal of Humic Acids and Cr(vi)

31. New Nanocatalyst for Vocs Removal from Recycled Plastics

32. PVDF HFP_RuO2 Nanocomposite Aerogels Produced by Supercritical Drying for Electrochemical Oxidation of Model Tannery Wastewaters

34. Ionocytes and CFTR Chloride Channel Expression in Normal and Cystic Fibrosis Nasal and Bronchial Epithelial Cells

35. The Autophagy Inhibitor Spautin-1 Antagonizes Rescue of Mutant CFTR Through an Autophagy-Independent and USP13-Mediated Mechanism

36. H2 Production Improvement during Pyrolysis Catalized by Zeolites

37. Clinical and demographic features of patients with SMA on treatment with risdiplam: the iSMAc experience

38. Mapping the human genetic architecture of COVID-19

40. Graphene Oxide as a Novel Nanoplatform for Electrochemical Detection of Arsenic (III)

42. Synthesis and Functionalization of Carbon Nanotubes and Graphene Based Supercapacitor for Arsenic Removal and Water Desalination: a Comparison

43. Upregulation of TMEM16A Protein in Bronchial Epithelial Cells by Bacterial Pyocyanin.

44. Mapping the human genetic architecture of COVID-19

47. Modeling and Analysis of Virgin Ge-Rich GST Embedded Phase Change Memories

48. Corrigendum: Normal calcium-activated anion secretion in a mouse selectively lacking tmem16a in intestinal epithelium (Front. Physiol. 10, 694, 10.3389/fphys.2019.00694)

49. Self consistently calibrated photopyroelectric calorimeter for the high resolution simultaneous absolute measurement of the specific heat and of the thermal conductivity

50. EPO receptor gain-of-function causes hereditary polycythemia, alters CD34 cell differentiation and increases circulating endothelial precursors.

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