Showing 1 - 3 results of 3 for search 'Jozef Gecz' Skip to content
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  • Jozef Gecz
Showing 1 - 3 results of 3 for search 'Jozef Gecz', query time: 0.01s Refine Results
  1. 1
    CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome

    CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome by Amika Singla, Carolyn Rogers, Mary-Joe Touma, Yassin El-Najjar, Alison Colley, Daniel J. Boesch, Daniel D. Billadeau, Jozef Gecz, Baoyu Chen, Ezra Burstein

    Published 2025-05-01
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  2. 2
    PAK3 pathogenic variant associated with sleep‐related hypermotor epilepsy in a family with parental mosaicism

    PAK3 pathogenic variant associated with sleep‐related hypermotor epilepsy in a family with parental mosaicism by Antonio Gambardella, Yu‐Chi Liu, Mark F. Bennett, Timothy E. Green, John A. Damiano, Francesco Fortunato, Matthew J. Coleman, Jacqueline Cherfils, Jean‐Vianney Barnier, Jozef Gecz, Melanie Bahlo, Samuel F. Berkovic, Michael S. Hildebrand

    Published 2025-04-01
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  3. 3
    FRA2A is a CGG repeat expansion associated with silencing of AFF3.

    FRA2A is a CGG repeat expansion associated with silencing of AFF3. by Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, Martin S Taylor, Hemant Bengani, David I Wilson, Chandra Sekhar Reddy Chilamakuri, Harris Morrison, Geert Vandeweyer, Edwin Reyniers, Evelyn Douglas, Geoffrey Thompson, Eric Haan, Jozef Gecz, David R Fitzpatrick, R Frank Kooy

    Published 2014-04-01
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