Hasil Pencarian - Scott Demarest
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1
P569: NextGen training of medical professionals for evolving genomic interventions oleh Margarita Saenz, Kaitlin Angione, Megan Abbott, Scott Demarest
Diterbitkan 2024-01-01
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2
Prevalence of cerebral visual impairment in developmental and Epileptic Encephalopathies: a systematic review protocol oleh Martina Giorgia Perinelli, Megan Abbott, Ganna Balagura, Antonella Riva, Elisabetta Amadori, Alberto Verrotti, Scott Demarest, Pasquale Striano
Diterbitkan 2024-08-01
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3
4478 Not just GLUT1: genome sequencing reveals genetic heterogeneity in Doose syndrome oleh Jeffrey Dennis Calhoun, Jonathan Gunti, Katie Angione, Elizabeth Geiger, Krista Eschbach, Garnett Smith, Charuta Joshi, Tamim Shaikh, Scott Demarest, Gemma Carvill
Diterbitkan 2020-06-01
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4
Patterns of developmental regression and associated clinical characteristics in SLC6A1-related disorder oleh 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
Diterbitkan 2023-02-01
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5
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition oleh Elena Arystarkhova, Ihtsham U. Haq, Timothy Luebbert, Fanny Mochel, Rachel Saunders-Pullman, Susan B. Bressman, Polina Feschenko, Cynthia Salazar, Jared F. Cook, Scott Demarest, Allison Brashear, Laurie J. Ozelius, Kathleen J. Sweadner
Diterbitkan 2019-12-01
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6
International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder oleh Sam Amin, Marie Monaghan, Angel Aledo-Serrano, Nadia Bahi-Buisson, Richard F. Chin, Angus J. Clarke, J. Helen Cross, Scott Demarest, Orrin Devinsky, Jenny Downs, Jenny Downs, Elia M. Pestana Knight, Heather Olson, Carol-Anne Partridge, Graham Stuart, Marina Trivisano, Sameer Zuberi, Sameer Zuberi, Tim A. Benke
Diterbitkan 2022-06-01
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