Hasil Pencarian - Francesca Cancellieri

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  1. 1
    GNB1-Related Rod-Cone Dystrophy: A Case Report

    GNB1-Related Rod-Cone Dystrophy: A Case Report oleh Giovanni Marco Conti, Francesca Cancellieri, Mathieu Quinodoz, Karolina Kaminska, Veronika Vaclavik, Carlo Rivolta, Hoai Viet Tran

    Diterbitkan 2024-03-01
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  2. 2
    Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies

    Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies oleh Atta Ur Rehman, Neda Sepahi, Nicola Bedoni, Zeinab Ravesh, Arash Salmaninejad, Francesca Cancellieri, Virginie G. Peter, Mathieu Quinodoz, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Saman Ghalamkari, Mehran Piran, Mehrdad Piran, Andrea Superti-Furga, Carlo Rivolta

    Diterbitkan 2021-09-01
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  3. 3
    Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

    Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype oleh Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li, Robert A. Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B. Haack, Katarina Stingl, Genomics England Research Consortium, Carel B. Hoyng, Omar A. Mahroo, Iain Hargreaves, F. Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R. Webster, Gavin Arno

    Diterbitkan 2022-10-01
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