Search Results - Mauri, Lucia

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  1. 1
    Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?

    Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage? by Vuckovic, Dragana, Dallapiccola, Bruno, Franzè, Annamaria, Mauri, Lucia, Perrone, Maria Dolores, Gasparini, Paolo

    Published 2015
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  2. 2
    SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa

    SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa by Chiereghin, Chiara, Robusto, Michela, Mauri, Lucia, Primignani, Paola, Castorina, Pierangela, Ambrosetti, Umberto, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia

    Published 2021
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  3. 3
    Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

    Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma by Mauri, Lucia, Uebe, Steffen, Sticht, Heinrich, Vossmerbaeumer, Urs, Weisschuh, Nicole, Manfredini, Emanuela, Maselli, Edoardo, Patrosso, Mariacristina, Weinreb, Robert N., Penco, Silvana, Reis, André, Pasutto, Francesca

    Published 2016
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  4. 4
    Successful Extracorporeal Membrane Oxygenation After Incidental Azygos Vein Cannulation in a Neonate With Right-Sided Congenital Diaphragmatic Hernia Interruption of the Inferior Vena Cava and Azygos Continuation

    Successful Extracorporeal Membrane Oxygenation After Incidental Azygos Vein Cannulation in a Neonate With Right-Sided Congenital Diaphragmatic Hernia Interruption of the Inferior V... by Mayer, Alessandra, Raffaeli, Genny, Schena, Federico, Parente, Valeria, Sorrentino, Gabriele, Macchini, Francesco, Colli, Anna Maria, Mauri, Lucia, Neri, Simona, Borzani, Irene, Leva, Ernesto, Mosca, Fabio, Cavallaro, Giacomo

    Published 2019
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  5. 5
    Enterovirus fulminant myocarditis as cause of acute heart failure in a newborn

    Enterovirus fulminant myocarditis as cause of acute heart failure in a newborn by Annoni, Giuseppe, De Rienzo, Francesca, Nonini, Sandra, Pugni, Lorenza, Marianeschi, Stefano M., Mauri, Luigi, Gatelli, Italo, Mauri, Lucia, Aresta, Francesca, Bramerio, Manuela, Francescato, Gaia, Carro, Cristina, Picciolli, Irene, Nava, Alice, Fanti, Diana, Galli, Cristina, Mosca, Fabio, Martinelli, Stefano, Ammirati, Enrico

    Published 2022
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  6. 6
    Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma

    Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma by Siggs, Owen M., Souzeau, Emmanuelle, Pasutto, Francesca, Dubowsky, Andrew, Smith, James E. H., Taranath, Deepa, Pater, John, Rait, Julian L., Narita, Andrew, Mauri, Lucia, Del Longo, Alessandra, Reis, André, Chappell, Angela, Kearns, Lisa S., Staffieri, Sandra E., Elder, James E., Ruddle, Jonathan B., Hewitt, Alex W., Burdon, Kathryn P., Mackey, David A., Craig, Jamie E.

    Published 2019
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  7. 7
    Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

    Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity by Souma, Tomokazu, Tompson, Stuart W., Thomson, Benjamin R., Siggs, Owen M., Kizhatil, Krishnakumar, Yamaguchi, Shinji, Feng, Liang, Limviphuvadh, Vachiranee, Whisenhunt, Kristina N., Maurer-Stroh, Sebastian, Yanovitch, Tammy L., Kalaydjieva, Luba, Azmanov, Dimitar N., Finzi, Simone, Mauri, Lucia, Javadiyan, Shahrbanou, Souzeau, Emmanuelle, Zhou, Tiger, Hewitt, Alex W., Kloss, Bethany, Burdon, Kathryn P., Mackey, David A., Allen, Keri F., Ruddle, Jonathan B., Lim, Sing-Hui, Rozen, Steve, Tran-Viet, Khanh-Nhat, Liu, Xiaorong, John, Simon, Wiggs, Janey L., Pasutto, Francesca, Craig, Jamie E., Jin, Jing, Quaggin, Susan E., Young, Terri L.

    Published 2016
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