Hasil Pencarian - Emma C. Bedoukian

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  1. 1
    Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant

    Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant oleh Emma C. Bedoukian, Stefan Rentas, Cara Skraban, Qing Shao, James Treat, Dale W. Laird, Kathleen E. Sullivan

    Diterbitkan 2021-02-01
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  2. 2
    Anti-TRPM1 autoantibody-positive unilateral melanoma associated retinopathy (MAR) triggered by immunotherapy recapitulates functional and structural details of TRPM1-associated congenital stationary night blindness

    Anti-TRPM1 autoantibody-positive unilateral melanoma associated retinopathy (MAR) triggered by immunotherapy recapitulates functional and structural details of TRPM1-associated con... oleh Devin C. Cohen, Alexander Sumaroka, Joshua A. Paulos, Tara C. Mitchell, Arlene J. Santos, Erin C. O'Neil, Emma C. Bedoukian, Grazyna Adamus, Artur V. Cideciyan, Tomas S. Aleman

    Diterbitkan 2024-12-01
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  3. 3
    Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

    Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder oleh Siddharth Srivastava, Erica L. Macke, Lindsay C. Swanson, David Coulter, Eric W. Klee, Sureni V. Mullegama, Yili Xie, Brendan C. Lanpher, Emma C. Bedoukian, Cara M. Skraban, Laurent Villard, Mathieu Milh, Mary L. O. Leppert, Julie S. Cohen

    Diterbitkan 2021-07-01
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