Resultats de la cerca - Ercan Demir

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  1. 1
    Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy

    Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy per Ercan Demir, Patrizia Sabatelli, Valérie Allamand, Ana Ferreiro, Behzad Moghadaszadeh, Mohamed Makrelouf, Haluk Topaloğlu, Bernard Échenne, Luciano Merlini, Pascale Guicheney

    Publicat 2002
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    Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

    Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia per Isaac Marin‐Valencia, Andreas Gerondopoulos, Maha S. Zaki, Tawfeg Ben‐Omran, Mariam Almureikhi, Ercan Demir, Alicia Guemez‐Gamboa, Anne Gregor, Mahmoud Y. Issa, Bart Appelhof, Susanne Roosing, Damir Musaev, Başak Rosti, Sara A. Wirth, Valentina Stanley, Frank Baas, Francis A. Barr, Joseph G. Gleeson

    Publicat 2017
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