Search Results - Scott Demarest

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  1. 1

    P569: NextGen training of medical professionals for evolving genomic interventions by Margarita Saenz, Kaitlin Angione, Megan Abbott, Scott Demarest

    Published in Genetics in Medicine Open (2024-01-01)
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  2. 2

    Prevalence of cerebral visual impairment in developmental and Epileptic Encephalopathies: a systematic review protocol by Martina Giorgia Perinelli, Megan Abbott, Ganna Balagura, Antonella Riva, Elisabetta Amadori, Alberto Verrotti, Scott Demarest, Pasquale Striano

    Published in Systematic Reviews (2024-08-01)
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  3. 3

    4478 Not just GLUT1: genome sequencing reveals genetic heterogeneity in Doose syndrome by Jeffrey Dennis Calhoun, Jonathan Gunti, Katie Angione, Elizabeth Geiger, Krista Eschbach, Garnett Smith, Charuta Joshi, Tamim Shaikh, Scott Demarest, Gemma Carvill

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  4. 4

    Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder by Sanjana Kalvakuntla, MinJae Lee, Wendy K. Chung, Scott Demarest, Amber Freed, Kyle J. Horning, Terry Jo Bichell, Susan T. Iannaccone, Susan T. Iannaccone, Kimberly Goodspeed, Kimberly Goodspeed, Kimberly Goodspeed

    Published in Frontiers in Neuroscience (2023-02-01)
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  5. 5

    A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases by Olivia Kim-McManus, Joseph G. Gleeson, Laurence Mignon, Amena Smith Fine, Winston Yan, Nicole Nolen, Scott Demarest, Elizabeth Berry-Kravis, Richard Finkel, Stefanie Leonard, Samuel Finlayson, Erika Augustine, Gholson J. Lyon, Rebecca Schule, Timothy Yu

    Published in Nature Communications (2024-11-01)
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