49 results on '"Uliana, Vera"'
Search Results
2. SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern
3. Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory
4. A patient with mosaic USP9X gene variant
5. Phenotypic Expansion of Autosomal Dominant LZTR1 -Related Disorders with Special Emphasis on Adult-Onset Features.
6. Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing
7. Charcot–Marie–Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy.
8. TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa
9. Severe hypertrophic cardiomyopathy in a patient with a homozygous MYH7 gene variant
10. Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques
11. Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.
12. Reassessment of the NF1 Variants of Unknown Significance Found During the 20-Year Activity of a Genetics Diagnostic Laboratory
13. Biological Role and Clinical Implications of microRNAs in BRCA Mutation Carriers
14. Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I
15. Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2
16. Private inherited microdeletion/microduplications: Implications in clinical practice
17. Abstract PD10-04: Prognostic significance of germline BRCA mutations in patients with HER2-positive breast cancer. Epidemiological analysis in primary BRCA screens
18. Clinical and molecular characterization of Italian patients affected by Cohen syndrome
19. Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study
20. Cannabis and Psychosis: A Systematic Review of Genetic Studies
21. Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
22. Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome
23. Mechanism of Action and Clinical Efficacy of CDK4/6 Inhibitors in BRCA-Mutated, Estrogen Receptor-Positive Breast Cancers: Case Report and Literature Review
24. Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene
25. Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study.
26. Genetics of Autoinflammatory Diseases
27. Erratum to: Clinical and molecular characterization of Italian patients affected by Cohen syndrome
28. Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I
29. 3q26.33–3q27.2 microdeletion: A new microdeletion syndrome?
30. Reverse phenotyping comes of age
31. 19q13 microdeletion syndrome: Further refining the critical region
32. HTA of genetic testing for susceptibility to venous thromboembolism in Italiy
33. Cryptic 13q34 and 4q35.2 Deletions in an Italian Family
34. 3.2 Mb microdeletion in chromosome 7 bands q22.2–q22.3 associated with overgrowth and delayed bone age
35. Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
36. Setleis Syndrome: Genetic and Clinical Findings in a New Case With Epilepsy
37. Cryptic 13q34 and 4q35.2 Deletions in an Italian Family.
38. HTA of genetic testing for susceptibility to venous thromboembolism in Italiy
39. A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development
40. Possible Influence of a Non-Synonymous Polymorphism Located in the NGF Precursor on Susceptibility to Late-Onset Alzheimer's Disease and Mild Cognitive Impairment
41. Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2
42. High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome
43. Levantamento preliminar das espécies de >i/i< G. Mey. para o neotrópico e revisão do gênero >i/i< G. Mey Sér. >i/i< (Petersen) K. Schum.
44. Is HSD17B1 a new sex reversal gene in human?
45. Clinical and molecular characterization of Italian patients affected by Cohen syndrome
46. Expanding the phenotype of 22q11 deletion syndrome: the MURCS association
47. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita
48. Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques
49. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
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