Giorgia Mazzuccato
Rome, Italy
Last Updated: 09/26/2026
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Found 13 publications
Serum Immunoglobulin G (IgG) Subclasses in a Cohort of Systemic Sclerosis Patients.
Journal: Journal of personalized medicine
Published: January 12, 2023
Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH).
Journal: Molecular biology reports
Published: February 18, 2021
Identification and in silico characterization of a novel PKLR genotype in a Turkish newborn.
Journal: Molecular biology reports
Published: June 15, 2020
Identification of two novel LDLR variants by Next Generation Sequencing.
Journal: Annali dell'Istituto superiore di sanita
Published: April 04, 2020
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.
Journal: Molecular biology reports
Published: February 10, 2020
Detecting Large Germline Rearrangements of BRCA1 by Next Generation Tumor Sequencing
Journal: Molekuliarnaia biologiia
Published: September 30, 2019
Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis.
Journal: Molecular biology reports
Published: September 19, 2019
Molecular basis of favism triggered by ingestion of frozen pumpkin cross-contaminated with fava beans.
Journal: Clinical biochemistry
Published: March 12, 2019
Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant.
Journal: Clinical biochemistry
Published: June 15, 2018
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.
Journal: Human genome variation
Published: February 27, 2018
Last Updated: 09/26/2026