Showing 1 - 8 results of 8 for search 'Donatella Milani', query time: 0.07s Refine Results
  1. 1
    Fragile X syndrome: a review of clinical and molecular diagnoses

    Fragile X syndrome: a review of clinical and molecular diagnoses by Claudia Ciaccio, Laura Fontana, Donatella Milani, Silvia Tabano, Monica Miozzo, Susanna Esposito

    Published 2017
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  2. 2
    From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case report

    From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case report by Elena Cacciatori, Sebastiano Aleo, Giulietta Scuvera, Chiara Rigon, Paola Giovanna Marchisio, Matteo Cassina, Donatella Milani

    Published 2022
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  3. 3
    The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients

    The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients by Elisabetta Prada, Camilla Meossi, Denise Piras Marafon, Federico Grilli, Giulietta Scuvera, Paola Giovanna Marchisio, Carlo Virginio Agostoni, Federica Natacci, Donatella Milani

    Published 2024
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  4. 4
    Correction to: Incidental finding of APC deletion in a child: double trouble or double chance? - a case report

    Correction to: Incidental finding of APC deletion in a child: double trouble or double chance? - a case report by Erica Rosina, Berardo Rinaldi, Rosamaria Silipigni, Luca Bergamaschi, Giovanna Gattuso, Stefano Signoroni, Silvana Guerneri, Alessandra Carnevali, Paola Giovanna Marchisio, Donatella Milani

    Published 2021
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  5. 5
    Incidental finding of APC deletion in a child: double trouble or double chance? - a case report

    Incidental finding of APC deletion in a child: double trouble or double chance? - a case report by Erica Rosina, Berardo Rinaldi, Rosamaria Silipigni, Luca Bergamaschi, Giovanna Gattuso, Stefano Signoroni, Silvana Guerneri, Alessandra Carnevali, Paola Giovanna Marchisio, Donatella Milani

    Published 2021
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  6. 6
    New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review

    New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review by Anna Pichiecchio, Giovanni Vitale, Camilla Caporali, Cecilia Parazzini, Donatella Milani, Maria Paola Recalcati, Laura D'Amico, Sabrina Signorini, Umberto Balottin, Stefano Bastianello

    Published 2018
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  7. 7
    A long way to syndromic short stature

    A long way to syndromic short stature by Federica Gaudioso, Camilla Meossi, Lidia Pezzani, Federico Grilli, Rosamaria Silipigni, Silvia Russo, Maura Masciadri, Alessandro Vimercati, Paola Giovanna Marchisio, Maria Francesca Bedeschi, Donatella Milani

    Published 2024
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  8. 8
    A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report

    A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report by Giada Moresco, Jole Costanza, Carlo Santaniello, Ornella Rondinone, Federico Grilli, Elisabetta Prada, Simona Orcesi, Ilaria Coro, Anna Pichiecchio, Paola Marchisio, Monica Miozzo, Laura Fontana, Donatella Milani

    Published 2021
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