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  1. 1
    Isolated Sulfite Oxidase Deficiency: Response to Dietary Treatment in a Patient with Severe Neonatal Presentation

    Isolated Sulfite Oxidase Deficiency: Response to Dietary Treatment in a Patient with Severe Neonatal Presentation by Monica Boyer, Mary Sowa, Raymond Wang, Jose Abdenur

    Published 2019-06-01
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  2. 2
    Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene

    Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene by Gudny A. Arnadottir, Asmundur Oddsson, Brynjar O. Jensson, Svanborg Gisladottir, Mariella T. Simon, Asgeir O. Arnthorsson, Hildigunnur Katrinardottir, Run Fridriksdottir, Erna V. Ivarsdottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Rebekah Barrick, Jona Saemundsdottir, Louise le Roux, Gudjon R. Oskarsson, Jurate Asmundsson, Thora Steffensen, Kjartan R. Gudmundsson, Petur Ludvigsson, Jon J. Jonsson, Gisli Masson, Ingileif Jonsdottir, Hilma Holm, Jon G. Jonasson, Olafur Th. Magnusson, Olafur Thorarensen, Jose Abdenur, Gudmundur L. Norddahl, Daniel F. Gudbjartsson, Hans T. Bjornsson, Unnur Thorsteinsdottir, Patrick Sulem, Kari Stefansson

    Published 2022-02-01
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