139 results on '"Pelo, Elisabetta"'
Search Results
2. Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy
3. Looking into the Quantification of Forensic Samples with Real-Time PCR
4. Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients
5. Myopic Macular Hole and Detachment after Gene Therapy in Atypical RPE65 Retinal Dystrophy: A Case Report.
6. Extramedullary blastic transformation of primary myelofibrosis in the form of disseminated myeloid sarcoma: a case report and review of the literature
7. RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy
8. Nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRα, PDGFRβ, FGFR1 or PCM1-JAK2
9. Study by next generation sequencing of sudden cardiac death (SCD)
10. Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center
11. The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes
12. Unilateral Agenesis of the Mandible (Agnathia) in a Fetus with 4p-/10q Duplication Associated with Balanced Paternal Cryptic 4p/10q Translocation: Multidisciplinary Management of a Complex Case
13. Editorial: Unravelling the basis of non-invasive prenatal screening results
14. Testing for rare types of Hereditary Hemochromatosis. A genetic study of two Italian families affected by early onset iron overload.
15. Unravelling the Basis of Non-Invasive Prenatal Screening Results
16. Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study)
17. Genetic Analysis of Suicide: A Sample Study in Tuscany (Central Italy)
18. Knowledge and attitude of general pratictioners towards direct-to-consumer genomic tests: a survey conducted in Italy
19. Choroidal Caverns in Stargardt Disease
20. Choroidal Vascularity Index in CHM Carriers
21. Additional file 5 of RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy
22. Additional file 4 of RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy
23. Additional file 6 of RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy
24. Additional file 1 of RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy
25. Additional file 3 of RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy
26. Additional file 2 of RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy
27. Additional file 1 of Nanopore sequencing for the screening of myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFR��, PDGFR��, FGFR1 or PCM1-JAK2
28. A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata
29. Positive Predictive Values and Outcomes for Uninformative Cell-Free DNA Tests: An Italian Multicentric Cytogenetic and Cytogenomic Audit of DiagnOstic Testing (ICARO Study)
30. Expression and Function of Gonadotropin-releasing Hormone (GnRH) Receptor in Human Olfactory GnRH-secreting Neurons: AN AUTOCRINE GnRH LOOP UNDERLIES NEURONAL MIGRATION
31. Long Reads, Short Time: Feasibility of Prenatal Sample Karyotyping by Nanopore Genome Sequencing
32. En face OCT in choroideremia
33. Nano-GLADIATOR: real-time detection of copy number alterations from nanopore sequencing data
34. CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease
35. Fundus phenotype in retinitis pigmentosa associated with EYS mutations
36. S737F is a new CFTR mutation typical of patients originally from the Tuscany region in Italy
37. A Computational Approach From Gene to Structure Analysis of the Human ABCA4 Transporter Involved in Genetic Retinal Diseases
38. A novel GRK1 mutation in an Italian patient with Oguchi disease
39. 16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems
40. Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System
41. Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.
42. A new ATTR Phe64Ile mutation with late-onset multiorgan involvement
43. Familial amyloid polyneuropathy with genetic anticipation associated to a gly47glu transthyretin variant in an Italian kindred
44. Melting Temperature Assay for a UGT1A Gene Variant in Gilbert Syndrome
45. Methimazole embryopathy: Delineation of the phenotype
46. A novel GRK1 mutation in an Italian patient with Oguchi disease.
47. 42. Activity of prenatal diagnosis for cystic fibrosis in central Italy
48. 22. Regional distribution of CFTR mutations in central Italy
49. Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO Study)
50. Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy
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