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  Whole exome sequencing in a family with thromboangiitis obliterans

  Barbara Lunghi, Dario Balestra, Nicole Ziliotto, Giulia Pavani, Matteo Bovolenta, Patrizia Della Valle, Mirko Pinotti, Giovanna Marchetti, Armando D'Angelo, Francesco Bernardi

  28-08-2026

  https://doi.org/10.4081/btvb.2026.367

  1098

  PDF: 122

  SUPPLEMENTARY FILES: 99

• CO-02 | NEONATAL GENOMIC SCREENING ENABLES PRE-SYMPTOMATIC DIAGNOSIS AND PREVENTIVE MANAGEMENT OF HEMOPHILIA B. Borsellino¹, B. Pollio¹, P. Quarello^2|3, T. Martini¹, C. Linari⁴, M. Carabotta⁵, C. Cagnazzo², S. Minucci⁶, F. Fagioli^2|3 | ¹Paediatric Haemophilia Centre, Immune-Haematology and Transfusion Medicine, University Hospital "Città della Salute e della Scienza", Torino, Italy; ²Paediatric Onco-Hematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children’s Hospital, Torino, Italy; ³Department of Paediatric and Public Health Sciences, University of Turin, Italy; ⁴Department of Laboratory Medicine, Azienda Ospedaliera Universitaria Città della Salute e della Scienza, Torino, Italy; ⁵Department of Pediatrics, G. d'Annunzio University, Chieti, Italy; ⁶Italian Institute for Genomic Medicine, IRCCS, Candiolo, Italy

  Beatrice Borsellino

  14-10-2026

  https://doi.org/10.4081/btvb.2026.612

  67

  PDF: 10
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  Expanding the genetic landscape of hereditary thrombophilia: classical defects, novel variants, and genomic perspectives. A narrative review

  Chiara Simion, Elena Campello, Walter Ageno, Paolo Simioni

  28-08-2026

  https://doi.org/10.4081/btvb.2026.427

  1193

  PDF: 148

  SUPPLEMENTARY FILES: 107