43 results on '"Mello, Enrica"'
Search Results
2. p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients
3. Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in Congenital Adrenal Hyperplasia: First technical report
4. Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection
5. Rapid detection of CFH (p.Y402H) and ARMS2 (p.A69S) polymorphisms in age-related macular degeneration using high-resolution melting analysis
6. Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations
7. Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia
8. A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency
9. Retinal function and CFH-ARMS2 polymorphisms analysis: a pilot study in Italian AMD patients
10. A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form
11. CoERG11 A395T mutation confers azole resistance in Candida orthopsilosis clinical isolates
12. CoERG11 A395T mutation confers azole resistance in Candida orthopsilosis clinical isolates
13. A rapid diagnostic workflow for cefotaxime-resistant Escherichia coli and Klebsiella pneumoniae detection from blood cultures by MALDI-TOF mass spectrometry
14. Potential Use of MALDI-ToF Mass Spectrometry for Rapid Detection of Antifungal Resistance in the Human Pathogen Candida glabrata
15. Susceptibility Testing of Common and Uncommon Aspergillus Species Against Posaconazole and Other Mold-Active Antifungal Azoles Using the Sensititre Method
16. A rapid diagnostic workflow for cefotaxime-resistant Escherichia coli and Klebsiella pneumoniae detection from blood cultures by MALDI-TOF mass spectrometry
17. Potential Use of MALDI-ToF Mass Spectrometry for Rapid Detection of Antifungal Resistance in the Human Pathogen Candida glabrata
18. Susceptibility Testing of Common and Uncommon Aspergillus Species against Posaconazole and Other Mold-Active Antifungal Azoles Using the Sensititre Method
19. Diagnosis of Nocardia paucivorans central nervous system infection by DNA sequencing from paraffin-embedded tissue
20. Serum Endotoxin Activity Measured with Endotoxin Activity Assay Is Associated with Serum Interleukin-6 Levels in Patients on Chronic Hemodialysis
21. Comments to “A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency”
22. Contribution of the TA repeats on melting temperature (T(m)) in a double strand DNA: Comparison of two methods and implications in molecular diagnostics
23. Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population
24. The First Case of Association Between Postpartum Thyroiditis and Thyroid Hormone Resistance in an Italian Patient Showing a Novel p.V283A THRB Mutation
25. CYP21A2 p.E238 Deletion as Result of Multiple Microconversion Events
26. Functional effect of Saffron supplementation and risk genotypes in early age-related macular degeneration: a preliminary report
27. High Resolution Melting Analysis (HRMA) for the identification of a rare UGT1A1 promoter polymorphism
28. Multiplex Ligation-Dependent Probe Amplification Analysis Is Useful for Diagnosing Congenital Adrenal Hyperplasia but Requires a Deep Knowledge of CYP21A2 Genetics
29. Contribution of the TA repeats on melting temperature (Tm) in a double strand DNA: Comparison of two methods and implications in molecular diagnostics
30. A new CYP21A1P/CYP21A2chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form
31. Two novelCYP21A2missense mutations in Italian patients with 21-hydroxylase deficiency: Identification and functional characterisation
32. Two novel CYP21A2 missense mutations in Italian patients with 21-hydroxylase deficiency: Identification and functional characterisation.
33. CYP21A2 p.E238 Deletion as Result of Multiple Microconversion Events
34. Contribution of the TA repeats on melting temperature (T m) in a double strand DNA: Comparison of two methods and implications in molecular diagnostics
35. Diagnosis of Nocardia paucivorans central nervous system infection by DNA sequencing from paraffin-embedded tissue
36. Decision making in a not-so-foreign language: is there a reduction of decision biases in Venetian dialect?
37. Susceptibility Testing of Common and Uncommon AspergillusSpecies against Posaconazole and Other Mold-Active Antifungal Azoles Using the Sensititre Method
38. Genes, pseudogenes and like genes: The case of 21-hydroxylase in Italian population
39. Comments to 'A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency'
40. Functional effect of Saffron supplementation and risk genotypes in early age-related macular degeneration: a preliminary report
41. Retinal function and CFH-ARMS2 polymorphisms analysis: a pilot study in Italian AMD patients
42. Diagnosis of Nocardia paucivorans central nervous system infection by DNA sequencing from paraffin-embedded tissue.
43. A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.
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