Risultati della ricerca - Leila Qebibo

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  1. 1
    Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

    Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification di Agnès Bloch‐Zupan, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, Muriel De La Dure‐Molla, Emmanuelle Noirrit‐Esclassan, Magali Hernandez, Clara Joseph-Beaudin, Séréna Lopez-Cazaux, C Tardieu, Béatrice Thivichon‐Prince, Taťjana Dostálová, Milan Maçek, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzúa Orellana, Marie-Cécile Manière, Bénédicte Gérard, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter

    Pubblicazione 2023
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    Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

    Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders di Lydie Bürglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew G. L. Douglas, Mark P. Fitzgerald, Nicola Foulds, Cathérine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M. Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, V. Ramaekers, Sarah M. Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohács, Diana Rodriguez, David A. Dyment, Thomas Voets, Joris Vriens

    Pubblicazione 2023
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