Showing 1 - 2 results of 2 for search 'Stephanie Bivona', query time: 0.01s Refine Results
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    P265: Exploring ophthalmological diagnoses in the Undiagnosed Diseases Network: Insights and implications

    P265: Exploring ophthalmological diagnoses in the Undiagnosed Diseases Network: Insights and implications by Stephanie Bivona, Carson Smith, Nicholas Borja, Guney Bademci, LéShon Peart, Stephan Zuchner, Mustafa Tekin

    Published 2025-01-01
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  2. 2
    O24: Heterozygous de novo variants in CDKL1 and CDKL2 cause neuroregressive phenotypes in Human and Drosophila and are dominant negative alleles

    O24: Heterozygous de novo variants in CDKL1 and CDKL2 cause neuroregressive phenotypes in Human and Drosophila and are dominant negative alleles by Ali H. Bereshneh, Jonathan Andrews, Daniel Eberl, Guney Bademci, Nicholas Borja, Stephanie Bivona, Shinya Yamamoto, Michael F. Wangler, Shane McKee, Mustafa Tekin, Wendy Chung, Hugo Bellen, Oguz Kanca

    Published 2025-01-01
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