检索结果 - Paul Rollier

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    A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in <scp><i>GJB6</i></scp> gene

    A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in <scp><i>GJB6</i></scp> gene 由 Badreddine Elmakhzen, Paul Rollier, Clémence Saillard, Benoît Godey, Cédric Le Maréchal, Paul Guéguen, Isabelle Fajardy, Sylvie Odent, Laurent Pasquier

    出版 2025
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  2. 2
    Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

    Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia 由 Claire Guissart, Xénia Latypova, Paul Rollier, Tahir Naeem Khan, Hannah Stamberger, Kirsty McWalter, Megan T. Cho, Susanne Kjærgaard, Sarah Weckhuysen, Gaëtan Lesca, Thomas Besnard, Katrin Õunap, Lynn Schema, Andreas G. Chiocchetti, Marie McDonald, Julitta de Bellescize, Marie Vincent, Hilde Van Esch, Shannon G. Sattler, Irman Forghani, Isabelle Thiffault, Christine M. Freitag, Deborah Barbouth, Maxime Cadieux‐Dion, Rebecca Willaert, María J. Guillen Sacoto, Nicole P. Safina, Christèle Dubourg, Lauren Grote, Wilfrid Carré, Carol Saunders, Sander Pajusalu, Emily Farrow, Anne Boland, Danielle Karlowicz, Jean‐François Deleuze, Monica H. Wojcik, Rena Pressman, Bertrand Isidor, Annick Vogels, Wim Van Paesschen, Lihadh Al‐Gazali, Aisha M. Al Shamsi, Mireille Claustres, Aurora Pujol, Stephan Sanders, François Rivier, Nicolas Leboucq, Benjamin Cogné, Souphatta Sasorith, Damien Sanlaville, Kyle Retterer, Sylvie Odent, Nicholas Katsanis, Stéphane Bézieau, M. Kœnig, Erica E. Davis, Laurent Pasquier, Sébastien Küry

    出版 2018
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