393 results on '"Sangiuolo, Federica"'
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2. The Diagnostic Value of the 12-Lead ECG in Arrhythmogenic Left Ventricular Cardiomyopathy: Novel ECG Signs
3. From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging
4. Nebulization of pharmacological solutions with an innovative medical device based on microvaporization
5. Indole-3-carbinol in vitro antiviral activity against SARS-Cov-2 virus and in vivo toxicity
6. Effects of Simulated Microgravity on Wild Type and Marfan hiPSCs-Derived Embryoid Bodies
7. A Rare but Fatal Behçet Variant: The Hughes–Stovin Syndrome—Successful Case Report and New Evidence from Literature Review
8. Cell Electrokinetic Fingerprint: A Novel Approach Based on Optically Induced Dielectrophoresis (ODEP) for In‐Flow Identification of Single Cells.
9. A Dynamic and Effective Peptide-Based Strategy for Promptly Addressing Emerging SARS-CoV-2 Variants of Concern.
10. Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience
11. Natriuretic peptides are neuroprotective on in vitro models of PD and promote dopaminergic differentiation of hiPSCs-derived neurons via the Wnt/β-catenin signaling
12. Assembloid learning: opportunities and challenges for personalized approaches to brain functioning in health and disease.
13. Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes
14. COVID-19: S-Peptide RBD 484–508 Induces IFN-γ T-Cell Response in Naïve-to-Infection and Unvaccinated Subjects with Close Contact with SARS-CoV-2-Positive Patients
15. Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network
16. Application of CRISPR/Cas9 to human-induced pluripotent stem cells: from gene editing to drug discovery
17. Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
18. Editorial: Reviews in induced pluripotent stem cells
19. Pro-oncogenic action of LOX-1 and its splice variant LOX-1Δ4 in breast cancer phenotypes
20. A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser‐Winter syndrome
21. DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort
22. Organoid factory: The recent role of the human induced pluripotent stem cells (hiPSCs) in precision medicine
23. Gene Therapy
24. A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family
25. Volatile compounds emission from teratogenic human pluripotent stem cells observed during their differentiation in vivo
26. Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism
27. Two Different Therapeutic Approaches for SARS-CoV-2 in hiPSCs-Derived Lung Organoids
28. Mitochondrial dysfunction in mandibular hypoplasia, deafness and progeroid features with concomitant lipodystrophy (MDPL) patients
29. Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes
30. 3′-UTR OLR1/LOX-1 gene polymorphism and endothelial dysfunction: molecular and vascular data in never-treated hypertensive patients
31. Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts
32. MicroRNA genetic variations: association with type 2 diabetes
33. Clinical Features of LMNA-Related Cardiomyopathy in 18 Patients and Characterization of Two Novel Variants
34. Genetic and Epigenetic Factors of Takotsubo Syndrome: A Systematic Review
35. FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation
36. TCF7L2 gene polymorphisms and type 2 diabetes: association with diabetic retinopathy and cardiovascular autonomic neuropathy
37. Small Fragment Homologous Replacement (SFHR): Sequence-Specific Modification of Genomic DNA in Eukaryotic Cells by Small DNA Fragments
38. Peptide Platform as a Powerful Tool in the Fight against COVID-19
39. Urine LOX-1 and Volatilome as Promising Tools towards the Early Detection of Renal Cancer
40. A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles
41. Urine LOX-1 and Volatilome as Promising Tools towards Early Detection of Renal Cancer
42. IPLEX Administration Improves Motor Neuron Survival and Ameliorates Motor Functions in a Severe Mouse Model of Spinal Muscular Atrophy
43. Variants in MHY7 Gene Cause Arrhythmogenic Cardiomyopathy
44. Abstracts from the 23rd Italian congress of Cystic Fibrosis and the 13th National congress of Cystic Fibrosis Italian Society
45. Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity
46. Potential Clinical Applications of Embryonic Stem Cells
47. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. (Report)
48. Neurovascular manifestations in connective tissue diseases: The case of Marfan Syndrome
49. Specific miRNA and Gene Deregulation Characterize the Increased Angiogenic Remodeling of Thoracic Aneurysmatic Aortopathy in Marfan Syndrome
50. Carrier frequency of CFTR variants in the non‐Caucasian populations by genome aggregation database (gnomAD)‐based analysis
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