54 results on '"Guida, Valentina"'
Search Results
2. Novel ATP2A2 Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease
3. Physiological JNK3 Concentrations Are Higher in Motor-related and Disease-implicated Brain Regions of C57BL6/J Mice
4. Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes
5. Early genetic analysis by next‐generation sequencing improves diagnosis of primary ciliary dyskinesia
6. FOXI3 pathogenic variants cause one form of craniofacial microsomia
7. Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
8. Genotype-phenotype correlation in a group of patients with primary ciliary dyskinesia in Italy
9. Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects
10. Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome
11. Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis
12. The Added Value of 3-Dimensional Echocardiography to Understand the Pathophysiology of Functional Tricuspid Regurgitation
13. Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)
14. Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene
15. Assessment of left ventricular diastolic function by three‐dimensional transthoracic echocardiography
16. Neonatal Marfan Syndrome by Inherited Mutation
17. Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome
18. A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1
19. Development and prognostic validation of partition values to grade right ventricular dysfunction severity using 3D echocardiography
20. Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes
21. Cover Image, Volume 39, Issue 10
22. Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect
23. Morning blood pressure surge: pathophysiology, clinical relevance and therapeutic aspects
24. Novel α‐Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical‐Pathologic Correlation
25. GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome
26. Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients
27. Cardio-ankle vascular stiffness index (CAVI) and 24 h blood pressure profiles
28. Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene
29. Determinants of outcome in patients with chronic ischemic left ventricular dysfunction undergone percutaneous coronary interventions
30. A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum
31. Intra-aortic balloon pump for treatment of refractory ventricular tachycardia in Tako-Tsubo cardiomyopathy: A case report
32. The ADHF/NT-proBNP risk score to predict 1-year mortality in hospitalized patients with advanced decompensated heart failure
33. Clinical utility of N-terminal pro-B-type natriuretic peptide for risk stratification of patients with acute decompensated heart failure. Derivation and validation of the ADHF/NT-proBNP risk score
34. JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot
35. Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis
36. A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot
37. Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1
38. Application of MLPA assay to characterize unsolved α-globin gene rearrangements
39. Design of novel three-phase PCL/TZ–HA biomaterials for use in bone regeneration applications
40. Multiplex Ligation-Dependent Probe Amplification Analysis ofGATA4Gene Copy Number Variations in Patients with Isolated Congenital Heart Disease
41. Analysis of TP53 codon 72 polymorphism in HPV-positive and HPV-negative penile carcinoma
42. Interaction of DIO2 T92A and PPARγ2 P12A Polymorphisms in the Modulation of Metabolic Syndrome**
43. A Functional Variant of the Adipocyte Glycerol Channel Aquaporin 7 Gene Is Associated With Obesity and Related Metabolic Abnormalities
44. Functional analysis of splicing mutations in exon 7 of NF1gene
45. Detection of a Rare β-Globin Nonsense Mutation [Codon 59 (AAG→TAG)] in an Italian Family
46. Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs
47. Denaturing HPLC-Based Assay for Molecular Screening of Nondeletional Mutations Causing α-Thalassemias
48. Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa
49. Validation of dHPLC for Molecular Diagnosis of β-Thalassemia in Southern Italy
50. Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay
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