検索結果 - Kevin Booth
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P535: The undiagnosed rare disease clinic program of Indiana University: Lessons learned from the first 100 patients enrolled (Phase-I pilot) 著者: 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
出版年 Genetics in Medicine Open (2024-01-01)全文の入手
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P626: Enhancing ultra-rare disease diagnoses through multi-omics integration and multi-site collaboration in the Indiana University Undiagnosed Rare Disease Clinic (URDC) cohort 著者: Khurram Liaqat, Kayla Treat, Lili Mantcheva, Marco Abreu, Tae-Hwi Schwantes-An, Kevin Booth, Marwan Tayeh, Summan Thahiem, Benjamin Helm, Brett Graham, Patrick Gillespie, Stephanie Ware, Erin Conboy, Francesco Vetrini
出版年 Genetics in Medicine Open (2025-01-01)全文の入手
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P174: Comprehensive newborn hearing screening in generation genome through SEQaBOO (SEQuencing a Baby for an Optimal Outcome)* 著者: 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
出版年 Genetics in Medicine Open (2023-01-01)全文の入手
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P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature 著者: 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
出版年 Genetics in Medicine Open (2024-01-01)全文の入手
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