791 results on '"Ravazzolo, Roberto"'
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2. Hints on transcriptional control of essential players in heterotopic ossification of Fibrodysplasia Ossificans Progressiva
3. Mutations in DSTYK and Dominant Urinary Tract Malformations
4. Identification of reference genes for quantitative PCR during C3H10T1/2 chondrogenic differentiation
5. Phenotypic characterization of Grm1crv4 mice reveals a functional role for the type 1 metabotropic glutamate receptor in bone mineralization
6. IL12RB2 Polymorphisms correlate with risk of lung adenocarcinoma
7. The Implementation of ASSIST, an Environment for Parallel and Distributed Programming
8. In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins
9. Lactoferrin as a Possible Transcriptional Regulator : Downmodulation of the Granulocyte-Macrophage Colony-Stimulating Factor Promoter
10. TMEM16A, a Membrane Protein Associated with Calcium-Dependent Chloride Channel Activity
11. Albuminuria and Glomerular Damage in Mice Lacking the Metabotropic Glutamate Receptor 1
12. Editorial of Special Issue “Fibrodysplasia Ossificans Progressiva: Studies on Disease Mechanism towards Novel Therapeutic Approaches”
13. ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism
14. Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop
15. Correction to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva
16. New insights into central nervous system involvement in FOP: Case report and review of the literature
17. Identification of novel pathways and molecules able to down-regulate PHOX2B gene expression by in vitro drug screening approaches in neuroblastoma cells
18. Supplement to: Mutations in DSTYK and dominant urinary tract malformations.
19. Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome
20. The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia
21. VATER Association
22. Identification of TBX5 Mutations in a Series of 94 Patients With Tetralogy of Fallot
23. ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant
24. Teaching molecular genetics: chapter 4—positional cloning of genetic disorders
25. Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33
26. Proteomic analysis of the airway surface liquid: modulation by proinflammatory cytokines
27. Genomic Context and Mechanisms of the ACVR1 Mutation in Fibrodysplasia Ossificans Progressiva
28. Compensatory Molecular and Functional Mechanisms in Nervous System of the Grm1crv4 Mouse Lacking the mGlu1 Receptor: A Model for Motor Coordination Deficits
29. Epithelial Sodium Channel Silencing as a Strategy to Correct the Airway Surface Fluid Deficit in Cystic Fibrosis
30. Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS)
31. EEC- and ADULT-Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences
32. Allele-Specific Expression at the RET Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease
33. Gene dosage of the spermidine/spermine N1-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)
34. Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene
35. Betaine, Dimethyl Sulfoxide, and 7-Deaza-dGTP, a Powerful Mixture for Amplification of GC-Rich DNA Sequences
36. A rare haplotype of the RET proto-oncogene is a risk-modifying allele in Hirschsprung disease. (Report)
37. Vascular Ectasia of the Colon
38. VSD
39. Volume Depletion
40. Vitamin C Excess
41. Vitamin E Toxicity
42. Vitamin D Resistant Rickets
43. Vitamin H Deficiency
44. Venous Thromboembolism
45. Ventricular Arrhythmias
46. Vitamin B6-inherited Diseases
47. Veno-occlusive Disease
48. Vitamin E Poisoning
49. Vulvar Fusion
50. Vesicular Stomatitis Virus Infection
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