Showing 1 - 8 results of 8 for search 'Milena Crippa', query time: 0.03s Refine Results
  1. 1
    SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

    SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome by Milena Crippa, Milena Crippa, Ilaria Bestetti, Ilaria Bestetti, Silvia Maitz, Karin Weiss, Alice Spano, Maura Masciadri, Sarah Smithson, Lidia Larizza, Karen Low, Lior Cohen, Lior Cohen, Palma Finelli, Palma Finelli

    Published 2020-07-01
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  2. 2
    Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes

    Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes by Milena Crippa, Milena Crippa, Maria Teresa Bonati, Luciano Calzari, Chiara Picinelli, Cristina Gervasini, Alessandra Sironi, Alessandra Sironi, Ilaria Bestetti, Ilaria Bestetti, Sara Guzzetti, Simonetta Bellone, Angelo Selicorni, Alessandro Mussa, Andrea Riccio, Andrea Riccio, Giovanni Battista Ferrero, Silvia Russo, Lidia Larizza, Palma Finelli, Palma Finelli

    Published 2019-10-01
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  3. 3
    Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum

    Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum by Alessandro Vimercati, Pierpaola Tannorella, Eleonora Orlandini, Luciano Calzari, Mirella Moro, Sara Guzzetti, Angelo Selicorni, Milena Crippa, Lidia Larizza, Maria Teresa Bonati, Silvia Russo

    Published 2023-07-01
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  4. 4
    A familial t(4;8) translocation segregates with epilepsy and migraine with aura

    A familial t(4;8) translocation segregates with epilepsy and migraine with aura by Milena Crippa, Paola Malatesta, Maria Teresa Bonati, Francesco Trapasso, Francesco Fortunato, Grazia Annesi, Lidia Larizza, Angelo Labate, Palma Finelli, Nicola Perrotti, Antonio Gambardella

    Published 2020-05-01
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  5. 5
    Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome

    Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome by Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Matteo Bellini, Francesca Tumiatti, Sara Ballabio, Ferruccio Ceriotti, Luigi Memo, Maria Iascone, Lidia Larizza, Palma Finelli, Palma Finelli

    Published 2024-03-01
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  6. 6
    Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)

    Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)... by Valentina Alari, Silvia Russo, Davide Rovina, Aoife Gowran, Maria Garzo, Milena Crippa, Laura Mazzanti, Claudia Scalera, Ennio Prosperi, Daniela Giardino, Cristina Gervasini, Palma Finelli, Giulio Pompilio, Lidia Larizza

    Published 2018-07-01
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  7. 7
    (Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome

    (Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome by Laura Fontana, Maria F. Bedeschi, Giulia A. Cagnoli, Jole Costanza, Nicola Persico, Silvana Gangi, Matteo Porro, Paola F. Ajmone, Patrizia Colapietro, Carlo Santaniello, Milena Crippa, Silvia M. Sirchia, Monica Miozzo, Silvia Tabano

    Published 2020-09-01
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  8. 8
    Expanding the Molecular Spectrum of <i>ANKRD11</i> Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

    Expanding the Molecular Spectrum of <i>ANKRD11</i> Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome by Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Francesca Tumiatti, Maura Masciadri, Marie Falkenberg Smeland, Swati Naik, Oliver Murch, Maria Teresa Bonati, Alice Spano, Elisa Cattaneo, Milena Mariani, Fabio Gotta, Francesca Crosti, Pietro Cavalli, Chiara Pantaleoni, Federica Natacci, Maria Francesca Bedeschi, Donatella Milani, Silvia Maitz, Angelo Selicorni, Luigina Spaccini, Angela Peron, Silvia Russo, Lidia Larizza, Karen Low, Palma Finelli

    Published 2022-05-01
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