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Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi, Caterina; Pecci, Alessandro; Palombo, Flavia; Melazzini, Federica; Bottega, Roberta; Nardi, Elena; Bozzi, Valeria; Faleschini, Michela; Barozzi, Serena; Giangregorio, Tania; Magini, Pamela; Balduini, Carlo L; Savoia, Anna; Seri, Marco; Noris, Patrizia; Pippucci, Tommaso.
Affiliation
  • Marconi C; Department of Medical and Surgical Science, University of Bologna, Bologna.
  • Pecci A; Department of Internal Medicine, University of Pavia, Pavia, Italy; Medicina Generale 1, IRCCS Policlinico San Matteo Foundation, Pavia.
  • Palombo F; Department of Medical and Surgical Science, University of Bologna, Bologna.
  • Melazzini F; Department of Internal Medicine, University of Pavia, Pavia, Italy; Medicina Generale 1, IRCCS Policlinico San Matteo Foundation, Pavia.
  • Bottega R; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
  • Nardi E; Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna.
  • Bozzi V; Medicina Generale 1, IRCCS Policlinico San Matteo Foundation, Pavia.
  • Faleschini M; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
  • Barozzi S; Medicina Generale 1, IRCCS Policlinico San Matteo Foundation, Pavia.
  • Giangregorio T; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
  • Magini P; Medical Genetics Unit, IRCCS Azienda Ospedaliero Universitaria di Bologna, Policlinico di Sant'Orsola, Bologna.
  • Balduini CL; Department of Internal Medicine, University of Pavia, Pavia.
  • Savoia A; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy; Department of Medical Sciences, University of Trieste, Trieste.
  • Seri M; Department of Medical and Surgical Science, University of Bologna, Bologna, Italy; Medical Genetics Unit, IRCCS Azienda Ospedaliero Universitaria di Bologna, Policlinico di Sant'Orsola, Bologna. marco.seri@unibo.it.
  • Noris P; Department of Internal Medicine, University of Pavia, Pavia, Italy; Medicina Generale 1, IRCCS Policlinico San Matteo Foundation, Pavia.
  • Pippucci T; Medical Genetics Unit, IRCCS Azienda Ospedaliero Universitaria di Bologna, Policlinico di Sant'Orsola, Bologna.
Haematologica ; 108(7): 1909-1919, 2023 Jul 01.
Article de En | MEDLINE | ID: mdl-36519321
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Thrombopénie / Dépistage génétique Type d'étude: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limites: Humans Langue: En Journal: Haematologica Année: 2023 Type de document: Article
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Thrombopénie / Dépistage génétique Type d'étude: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limites: Humans Langue: En Journal: Haematologica Année: 2023 Type de document: Article