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    Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1 , a Gene Implicated in Ubiquitination

    Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1 , a Gene Implicated in Ubiquitination 由 Frauke Coppieters, Giulia Ascari, Katharina Dannhausen, Konstantinos Nikopoulos, Frank Peelman, Marcus Karlstetter, Mingchu Xu, Cécile Brachet, Isabelle Meunier, Miltiadis K. Tsilimbaris, Chrysanthi Tsika, Styliani Blazaki, Sarah Vergult, Pietro Farinelli, Thalia Van Laethem, Miriam Bauwens, Marieke De Bruyne, Rui Chen, Thomas Langmann, Ruifang Sui, Françoise Meire, Carlo Rivolta, Christian P. Hamel, Bart Leroy, Elfride De Baere

    出版 2016
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    Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

    Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects 由 Konstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, Chrysanthi Tsika, Béryl Royer‐Bertrand, Martial Mbefo, Nicola Bedoni, Ulrika Kjellström, Ikram El Zaoui, Silvio Alessandro Di Gioia, Sara Balzano, Katarina Cisarova, Andrea Messina, Sarah Decembrini, Sotiris Plainis, Styliani Blazaki, Muhammad Imran Khan, Shazia Micheal, Karsten Boldt, Marius Ueffing, Alexandre Moulin, Frans P.M. Cremers, Ronald Roepman, Yvan Arsenijévic, Miltiadis K. Tsilimbaris, Sten Andréasson, Carlo Rivolta

    出版 2016
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    Artigo
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