Hasil Pencarian - Joseph T. Shieh

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  1. 1
    Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis

    Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis oleh David R. Blair, Thomas J. Hoffmann, Joseph T. Shieh

    Diterbitkan 2022-06-01
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  2. 2
    Endovascular Biopsy for Detection of Somatic Mosaicism in Human Fusiform Cerebral Aneurysms

    Endovascular Biopsy for Detection of Somatic Mosaicism in Human Fusiform Cerebral Aneurysms oleh Joseph H. Garcia, Ethan A. Winkler, Kerstin Müller, Evan Kao, Kazim Narsinh, Nerissa Ko, Patricia Cornett, Adib A. Abla, Joseph T. Shieh, Daniel L. Cooke

    Diterbitkan 2022-09-01
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  3. 3
    Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy

    Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy oleh Joseph T. Shieh, Jesus A. Tintos-Hernandez, Chaya N. Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C. Lee, Joanna J. Phillips, César A.P.F. Alves, Ivan J. Dmochowski, Xilma R. Ortiz-González

    Diterbitkan 2023-10-01
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  4. 4
    Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders

    Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders oleh Joseph T. Shieh, Monica Penon-Portmann, Karen H. Y. Wong, Michal Levy-Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David Martin, Pui-Yan Kwok, Dario Boffelli

    Diterbitkan 2021-10-01
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  5. 5
    Application of full-genome analysis to diagnose rare monogenic disorders

    Application of full-genome analysis to diagnose rare monogenic disorders oleh Joseph T. Shieh, Monica Penon-Portmann, Karen H. Y. Wong, Michal Levy-Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David Martin, Pui-Yan Kwok, Dario Boffelli

    Diterbitkan 2021-09-01
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  6. 6
    Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition

    Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition oleh Sarah E. Sheppard, Michael E. March, Christoph Seiler, Leticia S. Matsuoka, Sophia E. Kim, Charlly Kao, Adam I. Rubin, Mark R. Battig, Nahla Khalek, Erica Schindewolf, Nora O’Connor, Erin Pinto, Jessica R.C. Priestley, Victoria R. Sanders, Rojeen Niazi, Arupa Ganguly, Cuiping Hou, Diana Slater, Ilona J. Frieden, Thy Huynh, Joseph T. Shieh, Ian D. Krantz, Jessenia C. Guerrero, Lea F. Surrey, David M. Biko, Pablo Laje, Leslie Castelo-Soccio, Taizo A. Nakano, Kristen Snyder, Christopher L. Smith, Dong Li, Yoav Dori, Hakon Hakonarson

    Diterbitkan 2023-05-01
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