11 results on '"Mazzuccato, Giorgia"'
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2. Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn
3. High resolution melting profiles (HRMPs) obtained by magnetic induction cycler (MIC) have been used to monitor the BRCA2 status highlighted by next generation tumor sequencing (NGTS): a combined approach in a diagnostic environment
4. Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis
5. Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant
6. Serum Immunoglobulin G (IgG) Subclasses in a Cohort of Systemic Sclerosis Patients
7. High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report
8. Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis
9. Molecular basis of favism triggered by ingestion of frozen pumpkin cross-contaminated with fava beans
10. Identification of two novel LDLR variants by Next Generation Sequencing.
11. Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence
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