Hasil Pencarian - Nicholas Borja

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  1. 1
    P276: Monozygotic diamniotic twins homozygous for FAM20C missense variant causing lethal Raine syndrome

    P276: Monozygotic diamniotic twins homozygous for FAM20C missense variant causing lethal Raine syndrome oleh Sofia Catena, Joanna Gonzalez, Krisna Maddy, Matthew Rodier, Nicholas Borja

    Diterbitkan 2024-01-01
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  2. 2
    O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN)

    O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN) oleh Stephanie Bivona, Carson Smith, Guney Bademci, LéShon Peart, Joanna Gonzalez, Nicholas Borja, Stephan Zuchner, Mustafa Tekin

    Diterbitkan 2024-01-01
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  3. 3
    Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease

    Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease oleh Nicholas Borja, Stephanie Bivona, Lé Shon Peart, Brittany Johnson, Joanna Gonzalez, Deborah Barbouth, Henry Moore, Shengru Guo, Undiagnosed Disease Network, Guney Bademci, Mustafa Tekin

    Diterbitkan 2022-04-01
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  4. 4
    P121: Comparison of diagnostic outcome amongst different ethnic backgrounds in UDN participants at the University of Miami clinical site

    P121: Comparison of diagnostic outcome amongst different ethnic backgrounds in UDN participants at the University of Miami clinical site oleh Stephanie Bivona, Mustafa Tekin, Guney Bademci, Carson Smith, LeShon Peart, Brittney Johnson, Joanna Gonzalez, Nicholas Borja, Paulo Borjas Mendoza, Irman Forghani, Deborah Barbouth, Kumarie Latchman, Willa Thorson, Shengru Guo, Stephan Zuchner

    Diterbitkan 2023-01-01
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  5. 5
    P642: Diagnostic yield of multi-omics approach in Undiagnosed Diseases Network Miami clinical site

    P642: Diagnostic yield of multi-omics approach in Undiagnosed Diseases Network Miami clinical site oleh Guney Bademci, Stephanie Bivona, LeShon Peart, Brittney Johnson, Joanna Gonzalez, Nicholas Borja, Paulo Borjas Mendoza, Irman Forghani, Deborah Barbouth, Kumarie Latchman, Willa Thorson, Shengru Guo, Carson Smith, Stephan Zuchner, Mustafa Tekin

    Diterbitkan 2023-01-01
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