Showing 1 - 6 results of 6 for search 'Maria Francesca Bedeschi', query time: 0.04s Refine Results
  1. 1
    CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia

    CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia by Alessandra Consales, Beatrice Letizia Crippa, Lorenzo Colombo, Roberta Villa, Francesca Menni, Claudia Giavoli, Fabio Mosca, Maria Francesca Bedeschi

    Published 2022
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  2. 2
    Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome

    Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome by Ester Capecchi, Roberta Villa, Alessandro Pini, Maria Iascone, Laura Messina, Paola Francesca Ajmone, Fabio Mosca, Silvana Gangi, Maria Francesca Bedeschi

    Published 2024
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  3. 3
    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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  4. 4
    Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

    Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases by Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin, Laura Fontana, Silvia M. Sirchia, Silvana Guerneri, Lorena Canazza, Ernesto Leva, Lorenzo Colombo, Faustina Lalatta, Fabio Mosca, Silvia Tabano, Monica Miozzo

    Published 2017
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  5. 5
    Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature

    Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature by Irene Picciolli, Angelo Ratti, Berardo Rinaldi, Anwar Baban, Maria Iascone, Gaia Francescato, Alessia Cappelleri, Monia Magliozzi, Antonio Novelli, Giovanni Parlapiano, Anna Maria Colli, Nicola Persico, Stefano Carugo, Fabio Mosca, Maria Francesca Bedeschi

    Published 2024
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  6. 6
    A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis

    A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis by Maria Francesca Bedeschi, Beatrice Letizia Crippa, Lorenzo Colombo, Martina Buscemi, Cesare Rossi, Roberta Villa, Silvana Gangi, Odoardo Picciolini, Claudia Cinnante, Viola Giulia Carlina Fergnani, Paola Francesca Ajmone, Elisa Scola, Fabio Triulzi, Fabio Mosca

    Published 2020
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