Search Results - Manickam, Murugu

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    Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

    Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review by Gurusamy, Umamaheswaran, Ramadesikan, Swetha, Marhabaie, Mohammad, Colwell, Caitlyn M, Hunter, Jesse M, Leung, Marco L, Mardis, Elaine R, White, Peter, Manickam, Murugu, Wilson, Richard K, Koboldt, Daniel C

    Published in Frontiers in genetics
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    Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome

    Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome by Ramadesikan, Swetha, Showpnil, Iftekhar A., Marhabaie, Mohammad, Daley, Allison, Varga, Elizabeth A., Gurusamy, Umamaheswaran, Pastore, Matthew T., Sites, Emily R., Manickam, Murugu, Bartholomew, Dennis W., Hunter, Jesse M., White, Peter, Wilson, Richard K., Stottmann, Rolf W., Koboldt, Daniel C.

    Published in HGG advances
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