Risultati della ricerca - Enyenihi, Liz

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  1. 1
    Tyrosyl phosphorylation of PZR promotes hypertrophic cardiomyopathy in PTPN11-associated Noonan syndrome with multiple lentigines

    Tyrosyl phosphorylation of PZR promotes hypertrophic cardiomyopathy in PTPN11-associated Noonan syndrome with multiple lentigines di Yi, Jae-Sung, Perla, Sravan, Enyenihi, Liz, Bennett, Anton M.

    Pubblicazione 2020
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  2. 2
    A budding yeast model for human disease mutations in the EXOSC2 cap subunit of the RNA exosome complex

    A budding yeast model for human disease mutations in the EXOSC2 cap subunit of the RNA exosome complex di Sterrett, Maria C., Enyenihi, Liz, Leung, Sara W., Hess, Laurie, Strassler, Sarah E., Farchi, Daniela, Lee, Richard S., Withers, Elise S., Kremsky, Isaac, Baker, Richard E., Basrai, Munira A., van Hoof, Ambro, Fasken, Milo B., Corbett, Anita H.

    Pubblicazione 2021
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  3. 3
    Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

    Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness di Slavotinek, Anne, Misceo, Doriana, Htun, Stephanie, Mathisen, Linda, Frengen, Eirik, Foreman, Michelle, Hurtig, Jennifer E, Enyenihi, Liz, Sterrett, Maria C, Leung, Sara W, Schneidman-Duhovny, Dina, Estrada-Veras, Juvianee, Duncan, Jacque L, Haaxma, Charlotte A, Kamsteeg, Erik-Jan, Xia, Vivian, Beleford, Daniah, Si, Yue, Douglas, Ganka, Treidene, Hans Einar, van Hoof, Ambro, Fasken, Milo B, Corbett, Anita H

    Pubblicazione 2020
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