Resultados de procura - Paolo Bordogna

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  1. 1
    Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum of<i>GNAS</i>Inactivating Mutations

    Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum of<i>GNAS</i>Inactivating Mutations por Francesca Marta Elli, Luisa deSanctis, Barbara Ceoloni, Anna Maria Barbieri, Paolo Bordogna, Paolo Beck‐Peccoz, Anna Spada, Giovanna Mantovani

    Publicado 2012
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  2. 2
    Autosomal Dominant Pseudohypoparathyroidism Type Ib: A Novel Inherited Deletion Ablating<i>STX16</i>Causes Loss of Imprinting at the A/B DMR

    Autosomal Dominant Pseudohypoparathyroidism Type Ib: A Novel Inherited Deletion Ablating<i>STX16</i>Causes Loss of Imprinting at the A/B DMR por Francesca Marta Elli, Luisa De Sanctis, Erika Peverelli, Paolo Bordogna, Barbara Pivetta, Gianmaria Miolo, Paolo Beck‐Peccoz, Anna Spada, Giovanna Mantovani

    Publicado 2014
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  3. 3
    Screening of <i>PRKAR1A</i> and <i>PDE4D</i> in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism

    Screening of <i>PRKAR1A</i> and <i>PDE4D</i> in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism por Francesca Marta Elli, Paolo Bordogna, Luisa De Sanctis, Federica Giachero, Elisa Verrua, Maria Segni, Laura Mazzanti, Valentina Boldrin, Alma Toromanović, Anna Spada, Giovanna Mantovani

    Publicado 2016
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  4. 4
    The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network

    The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network por Francesca Marta Elli, Agnès Linglart, Intza Garin, Luisa De Sanctis, Paolo Bordogna, Virginie Grybek, Arrate Pereda, Federica Giachero, Elisa Verrua, Patrick Hanna, Giovanna Mantovani, Guiomar Pérez de Nanclares

    Publicado 2016
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  5. 5
    From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

    From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network por Susanne Thiele, Giovanna Mantovani, Anne Barlier, Valentina Boldrin, Paolo Bordogna, Luisa De Sanctis, Francesca Marta Elli, Kathleen Freson, Intza Garin, Virginie Grybek, Patrick Hanna, Benedetta Izzi, Olaf Hiort, Beatriz Lecumberri, Arrate Pereda, Vrinda Saraff, Caroline Silve, Serap Turan, Alessia Usardi, Ralf Werner, Guiomar Pérez de Nanclares, Agnès Linglart

    Publicado 2016
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