286 results on '"Torricelli, Francesca"'
Search Results
2. Impact of Genotype on the Occurrence of Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy
3. Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes
4. Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations
5. Usher’s Syndrome Type II: A Comparative Study of Genetic Mutations and Vestibular System Evaluation
6. Prognostic Value of N-Terminal Pro-Brain Natriuretic Peptide in Outpatients With Hypertrophic Cardiomyopathy
7. Knowledge and attitude of general pratictioners towards direct-to-consumer genomic tests: a survey conducted in Italy
8. Survey of Italian Pediatricians on awareness, experiences and beliefs regarding direct-to-consumer genetic testing in minors
9. EX-HOM (EXome HOMozygosity) : A Proof of Principle
10. Microvascular Function Is Selectively Impaired in Patients With Hypertrophic Cardiomyopathy and Sarcomere Myofilament Gene Mutations
11. Techniques of dental DNA extraction: Some operative experiences
12. Newborn bacteraemia caused by an Aeromonas caviae producing the VIM-1 and SHV-12 β-lactamases, encoded by a transferable plasmid
13. False-Positive Results with Amylase Testing of Citrus Fruits
14. Looking for Hypertrophic Cardiomyopathy in the Community: Why Is It Important?
15. Genetic Epidemiology of Paget’s Disease of Bone in Italy: sequestosome1/p62 Gene Mutational Test and Haplotype Analysis at 5q35 in a Large Representative Series of Sporadic and Familial Italian Cases of Paget’s Disease of Bone
16. Use of donor bone marrow mesenchymal stem cells for treatment of skin allograft rejection in a preclinical rat model
17. Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson–Fabry disease
18. Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy
19. Microsatellite analysis of chromosome 3p region in sporadic renal cell carcinomas
20. Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript
21. Read count approach for DNA copy number variants detection
22. Detecting common copy number variants in high-throughput sequencing data by using JointSLM algorithm
23. A very fast and accurate method for calling aberrations in array-CGH data
24. A shifting level model algorithm that identifies aberrations in array-CGH data
25. Fontaine–Farriaux Syndrome: A Recognizable Craniosynostosis Syndrome With Nail, Skeletal, Abdominal, and Central Nervous System Anomalies
26. A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure
27. De novo balanced chromosome rearrangements in prenatal diagnosis
28. Retinal astrocytic hamartoma and Stargardtʼs disease: unusual association in a patient with ABCR mutation without phacomatosis
29. IFCC Position Paper: Report of the IFCC Taskforce on Ethics: Introduction and framework
30. Using a calibration experiment to assess gene-specific information: full Bayesian and empirical Bayesian models for two-channel microarray data
31. Th2-Oriented Profile of Male Offspring T Cells Present in Women With Systemic Sclerosis and Reactive With Maternal Major Histocompatibility Complex Antigens
32. 87 DNA markers for a paternity testing: Are they sufficient?
33. CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease
34. Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations
35. Inherited susceptibility to aminoglycoside ototoxicity: Genetic heterogeneity and clinical implications
36. Draft genome sequence of Proteus mirabilis NO-051/ 03, representative of a multidrug-resistant clone spreading in Europe and expressing the CMY-16 AmpC-type β-lactamase
37. Hypertrophic Cardiomyopathy in Anderson-Fabry Disease
38. 16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems
39. Utility of droplet digital PCR for the quantitative detection of polyomavirus JC in clinical samples
40. Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System
41. Draft Genome Sequence of Proteus mirabilis NO-051/03, Representative of a Multidrug-Resistant Clone Spreading in Europe and Expressing the CMY-16 AmpC-Type β-Lactamase
42. 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment
43. Draft Genome Sequence of the First Hypermucoviscous Klebsiella quasipneumoniae subsp. quasipneumoniae Isolate from a Bloodstream Infection
44. Characterization of a Novel Putative Xer-Dependent Integrative Mobile Element Carrying the bla NMC-A Carbapenemase Gene, Inserted into the Chromosome of Members of the Enterobacter cloacae Complex
45. Newborn bacteraemia caused by anAeromonas caviaeproducing the VIM-1 and SHV-12 β-lactamases, encoded by a transferable plasmid: Table 1.
46. A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene
47. Prognostic Value of Chromosome 1 Abnormalities in Myelodysplastic Syndrome
48. Novel α-Actinin 2 Variant Associated With Familial Hypertrophic Cardiomyopathy and Juvenile Atrial Arrhythmias
49. Improving complex kinship analyses with additional STR loci
50. Comparative Study for the Evaluation of a New Technology for Cystic Fibrosis Screening
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