Showing results (1-10 of 10) with videos related to
Sort By:
Pageof 1
Human Genome Variation|January 16, 2018
Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a <i>de novo</i> occurrenceGiulia Canu, Giorgia Mazzuccato, Andrea Urbani, et al.Clinical Biochemistry|May 8, 2025
Hook effect although rare, still existsGiulia Napoli, Simone Leggeri, Carla Lombardi, et al.Clinical Biochemistry|October 14, 2018
Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variantAngelo Minucci, Maurizio Lalle, Rossella De Leo, et al.Molecular Biology Reports|May 30, 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 environmentGiorgia Mazzuccato, Maria De Bonis, Vittoria Carboni, et al.Molecular Biology Reports|December 14, 2019
Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting AnalysisAngelo Minucci, Giorgia Mazzuccato, Marco D'Indinosante, et al.Molecular Biology Reports|April 17, 2021
Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH)Maria De Bonis, Elisa De Paolis, Maria Elisabetta Onori, et al.Annali Dell'Istituto Superiore Di Sanita|April 4, 2020
Identification of two novel LDLR variants by Next Generation SequencingSimona Moffa, Giorgia Mazzuccato, Maria De Bonis, et al.Human Genome Variation|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 reportAlessandra Costella, Rossella De Leo, Donatella Guarino, et al.Molecular Biology Reports|September 25, 2020
Identification and in silico characterization of a novel PKLR genotype in a Turkish newbornGiulia Canu, Elisa De Paolis, Benedetta Righino, et al.Journal of Personalized Medicine|February 25, 2023
Serum Immunoglobulin G (IgG) Subclasses in a Cohort of Systemic Sclerosis PatientsChiara Pellicano, Amalia Colalillo, Giuseppina Cusano, et al.Pageof 1