480 results on '"Melis, Daniela"'
Search Results
2. Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)
3. The role of unidentified bright objects in the neurocognitive profile of neurofibromatosis type 1 children: a volumetric MRI analysis
4. SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
5. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
6. Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
7. FOXI3 pathogenic variants cause one form of craniofacial microsomia
8. Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
9. Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
10. Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) antigen detection in the Emergency Department: data from a pediatric cohort during the fourth COVID-19 wave in Italy
11. Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity
12. Clinical report of a brain magnetic resonance imaging finding in Noonan syndrome
13. Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review
14. Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding
15. Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding
16. Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome
17. RASopathies and hemostatic abnormalities: key role of platelet dysfunction
18. Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
19. Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
20. Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib
21. Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance
22. Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement
23. Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1
24. Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature
25. Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development
26. Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis
27. Additional file 6 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
28. Additional file 2 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
29. Additional file 5 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
30. Additional file 1 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
31. Additional file 4 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
32. Additional file 3 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
33. Additional file 7 of Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia
34. Sintomi gastroenterologici come esordio nei disturbi del comportamento alimentare
35. Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques
36. Search for biomarkers and prognostic indicators of liver degeneration in glycogen storage disease type Ia
37. Medullary unidentified bright objects in Neurofibromatosis type 1: a case series
38. Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
39. A further contribution to the delineation of the 17q21.31 microdeletion syndrome: Central nervous involvement in two Italian patients
40. Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
41. DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
42. Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients
43. The SGLT2-inhibitor dapagliflozin improves neutropenia and neutrophil dysfunction in a mouse model of the inherited metabolic disorder GSDIb
44. Author response for 'Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings'
45. Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review
46. Una Entrevista con Laura Restrepo
47. Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib
48. Bone Metabolism In Patients With Type 1 Neurofibromatosis: Key Role of Sun Exposure and Physical Activity
49. Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings
50. Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
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