Hasil Pencarian - Kevin Booth

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  1. 1
    P322: Case report: A splice site variant in COL4A6 may cause recurrent stroke

    P322: Case report: A splice site variant in COL4A6 may cause recurrent stroke oleh Khurram Liaqat, Francesco Vetrini, Erin Conboy, Kayla Treat, Kevin Booth

    Diterbitkan 2024-01-01
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  2. 2
    P535: The undiagnosed rare disease clinic program of Indiana University: Lessons learned from the first 100 patients enrolled (Phase-I pilot)

    P535: The undiagnosed rare disease clinic program of Indiana University: Lessons learned from the first 100 patients enrolled (Phase-I pilot) oleh Khurram Liaqat, Francesco Vetrini, Erin Conboy, Kayla Treat, Lili Mantcheva, Marco Abreu, Tae-Hwi Schwantes-An, Kevin Booth, Reynold Ly, Amy Breman, Marwan Tayeh, Benjamin Helm, Brett Graham, Stephanie Ware

    Diterbitkan 2024-01-01
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  3. 3
    P174: Comprehensive newborn hearing screening in generation genome through SEQaBOO (SEQuencing a Baby for an Optimal Outcome)*

    P174: Comprehensive newborn hearing screening in generation genome through SEQaBOO (SEQuencing a Baby for an Optimal Outcome)* oleh Anne Giersch, Sami Amr, Kevin Booth, Matthew Hoi Kin Chau, Yvonne Chekaluk, Richard Choy, Michael Cohen, Elvis Dong, Jennifer Hochschild, Margaret Kenna, Lauren McGrath, Caroline Mitchell, Julia Perry, Aiden Shearer, Jun Shen, Matthew Stenerson, Cynthia Morton

    Diterbitkan 2023-01-01
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  4. 4
    P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature

    P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature oleh Kevin Booth, Sharayu Jangam, Martin Man Chun Chui, Kayla Treat, Lorenzo Graziani, Alessia Soldano, Kerry White, Celanie Christensen, Ty Lynnes, Shinya Yamamoto, Oguz Kanca, Mandy Tsang, Sally Lynch, Sureni Mullegama, Julia Baptista, Daniela Iancu, Shelag Joss, Christopher CY Mak, Anna Kwong, Hugo Bellen, Erin Conboy, Remo Sanges, Michael F. Wangler, Brian Hon-Yin Chung, Francesco Vetrini

    Diterbitkan 2024-01-01
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