16 results on '"Uliana, Vera"'
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2. Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory
3. A patient with mosaic USP9X gene variant
4. Phenotypic Expansion of Autosomal Dominant LZTR1 -Related Disorders with Special Emphasis on Adult-Onset Features.
5. Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing
6. Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases.
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. Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
16. Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques
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