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Whole exome sequencing in familial isolated primary hyperparathyroidism.
Cetani, F; Pardi, E; Aretini, P; Saponaro, F; Borsari, S; Mazoni, L; Apicella, M; Civita, P; La Ferla, M; Caligo, M A; Lessi, F; Mazzanti, C M; Torregossa, L; Oppo, A; Marcocci, C.
Afiliação
  • Cetani F; University Hospital of Pisa, Endocrine Unit 2, Via Paradisa 2, 56124, Pisa, Italy. cetani@endoc.med.unipi.it.
  • Pardi E; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Aretini P; Fondazione Pisana per la Scienza ONLUS, Pisa, Italy.
  • Saponaro F; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Borsari S; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Mazoni L; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Apicella M; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Civita P; Fondazione Pisana per la Scienza ONLUS, Pisa, Italy.
  • La Ferla M; Fondazione Pisana per la Scienza ONLUS, Pisa, Italy.
  • Caligo MA; Molecular Genetics Unit, Department of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy.
  • Lessi F; Fondazione Pisana per la Scienza ONLUS, Pisa, Italy.
  • Mazzanti CM; Fondazione Pisana per la Scienza ONLUS, Pisa, Italy.
  • Torregossa L; Division of Surgical Pathology, University Hospital of Pisa, Pisa, Italy.
  • Oppo A; Endocrinology Unit, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
  • Marcocci C; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
J Endocrinol Invest ; 43(2): 231-245, 2020 Feb.
Article em En | MEDLINE | ID: mdl-31486992

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Hiperparatireoidismo Primário / Sequenciamento do Exoma Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Endocrinol Invest Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Hiperparatireoidismo Primário / Sequenciamento do Exoma Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: J Endocrinol Invest Ano de publicação: 2020 Tipo de documento: Article