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Clinical Chemistry and Laboratory Medicine|February 26, 2022
Two co-inherited hemoglobin variants revealed by capillary electrophoresis during quantification of glycated hemoglobinGiovanni Antonello, Carlo Lo Monaco, Patrizia Napoli, et al.Frontiers in Pediatrics|October 23, 2023
The blood count as a compass to navigate in the ever-changing landscape of the carrier state of hemoglobinopathies: a single-center Italian experienceSilvio Marchesani, Margherita Di Mauro, Giulia Ceglie, et al.Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|May 24, 2008
Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a reviewBarbara Gentilin, Silvana Guerneri, Vera Bianchi, et al.Haematologica|March 11, 2008
Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemiaSilvia Galbiati, Barbara Foglieni, Maurizio Travi, et al.The Laryngoscope|May 3, 2007
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafnessPaola Primignani, Luca Trotta, Pierangela Castorina, et al.Clinical Chemistry and Laboratory Medicine|April 22, 2021
Hemoglobin Yamagata [β132(H10)Lys→Asn; (HBB: c.399A>T)]: a mosaic to be put togetherIacopo Iacomelli, Giuseppina Barberio, Piero Pucci, et al.Case Reports in Hematology|April 4, 2017
Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated FamiliesElisa Fermo, Cristina Vercellati, Anna Paola Marcello, et al.BMJ Open|December 8, 2025
Changes in attitudes towards prenatal diagnosis for haemoglobinopathies: a 40-year retrospective observational study in Northern ItalyVincenzo Voi, Noemi Giordano, Veronica Sciannameo, et al.Journal of Medical Genetics|February 26, 2016
COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasmaSilvia Galbiati, Alessandra Monguzzi, Francesco Damin, et al.Genetic Testing and Molecular Biomarkers|April 18, 2009
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing lossPaola Primignani, Luca Trotta, Pierangela Castorina, et al.Pageof 3