Showing 1 - 6 results of 6 for search 'Maria Piccione', query time: 0.05s Refine Results
  1. 1
    12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature

    12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature by Francesca Mercadante, Martina Busè, Emanuela Salzano, Tiziana Fragapane, Daniela Palazzo, Michela Malacarne, Maria Piccione

    Published 2020
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  2. 2
    Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1

    Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1 by Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro

    Published 2018
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  3. 3
    Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene

    Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene by Francesca Mercadante, Ettore Piro, Martina Busè, Emanuela Salzano, Arturo Ferrara, Gregorio Serra, Cristina Passarello, Giovanni Corsello, Maria Piccione

    Published 2022
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  4. 4
    Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration?

    Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration? by Gloria Pelizzo, Aurora Puglisi, Maria Lapi, Maria Piccione, Federico Matina, Martina Busè, Giovanni Battista Mura, Giuseppe Re, Valeria Calcaterra

    Published 2018
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  5. 5
    Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series

    Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series by Martina Busè, Helenia C. Cuttaia, Daniela Palazzo, Marcella V. Mazara, Salvatrice A. Lauricella, Michela Malacarne, Mauro Pierluigi, Simona Cavani, Maria Piccione

    Published 2017
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  6. 6
    Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

    Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review by Gloria Pelizzo, Mirella Collura, Aurora Puglisi, Maria Pia Pappalardo, Emanuele Agolini, Antonio Novelli, Maria Piccione, Caterina Cacace, Rossana Bussani, Giovanni Corsello, Valeria Calcaterra

    Published 2019
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