Showing 1 - 7 results of 7 for search 'Maria Cristina Digilio', query time: 0.03s Refine Results
  1. 1
    What's new in genetics of congenital heart defects

    What's new in genetics of congenital heart defects by Maria Cristina Digilio, Bruno Marino

    Published 2016
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  2. 2
    Genetics of atrioventricular canal defects

    Genetics of atrioventricular canal defects by Flaminia Pugnaloni, Maria Cristina Digilio, Carolina Putotto, Enrica De Luca, Bruno Marino, Paolo Versacci

    Published 2020
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  3. 3
    Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature

    Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature by Flaminia Pugnaloni, Domenico Umberto De Rose, Maria Cristina Digilio, Monia Magliozzi, Annabella Braguglia, Laura Valfrè, Alessandra Toscano, Andrea Dotta, Alessandra Di Pede

    Published 2024
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  4. 4
    22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects

    22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects by Carolina Putotto, Flaminia Pugnaloni, Marta Unolt, Stella Maiolo, Matteo Trezzi, Maria Cristina Digilio, Annapaola Cirillo, Giuseppe Limongelli, Bruno Marino, Giulio Calcagni, Paolo Versacci

    Published 2022
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  5. 5
    Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

    Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review by Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia

    Published 2020
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  6. 6
    Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature

    Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature by Chiara Maddaloni, Sara Ronci, Domenico Umberto De Rose, Iliana Bersani, Francesca Campi, Matteo Di Nardo, Francesca Stoppa, Rachele Adorisio, Antonio Amodeo, Alessandra Toscano, Maria Cristina Digilio, Antonio Novelli, Giovanni Chello, Annabella Braguglia, Andrea Dotta, Flaminia Calzolari

    Published 2024
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  7. 7
    Neurodevelopmental and genetic findings in neonates with intracranial arteriovenous shunts: A case series

    Neurodevelopmental and genetic findings in neonates with intracranial arteriovenous shunts: A case series by Francesca Campi, Domenico Umberto De Rose, Flaminia Pugnaloni, Sara Ronci, Monica Calì, Stefano Pro, Daniela Longo, Giulia Lucignani, Laura Raho, Elisa Pisaneschi, Maria Cristina Digilio, Immacolata Savarese, Iliana Bersani, Paolina Giuseppina Amante, Marta Conti, Paola De Liso, Irma Capolupo, Annabella Braguglia, Carlo Gandolfo, Andrea Dotta

    Published 2023
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