Showing 1 - 7 results of 7 for search 'John Bernat', query time: 0.03s Refine Results
  1. 1
    P283: A case of Niemann-Pick disease type C from suspected uniparental disomy of chromosome 18

    P283: A case of Niemann-Pick disease type C from suspected uniparental disomy of chromosome 18 by Allyson Rose, John Bernat

    Published 2023-01-01
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  2. 2
    P329: Mosaic Potocki-Lupski syndrome due to a supernumerary ring chromosome containing RAI1

    P329: Mosaic Potocki-Lupski syndrome due to a supernumerary ring chromosome containing RAI1 by Noel Tolvanen, John Bernat

    Published 2023-01-01
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  3. 3
    P033: Cardiac manifestations of Fabry disease: Insights from a clinic population through cardiac magnetic resonance imaging

    P033: Cardiac manifestations of Fabry disease: Insights from a clinic population through cardiac magnetic resonance imaging by Darby Manternach, Lindsey Reinhardt, Lauren VanOpdorp, Myrl Holida, Ravi Ashwath, Mahi Ashwath, John Bernat

    Published 2024-01-01
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  4. 4
    P145: Paradigm shift in Occam’s Razor and the need for genotype driven reverse phenotyping in rare diseases with complex phenotypes*

    P145: Paradigm shift in Occam’s Razor and the need for genotype driven reverse phenotyping in rare diseases with complex phenotypes* by Moon Ley Tung, Bharatendu Chandra, Jaime Nagy, Hatem El-Shanti, John Bernat, Nicole Safina, Amy Calhoun, Georgianne Younger, Kyle Dillahunt, Anna Paulson, Taylor Warner, Hannah Bombei, Jaclyn Kotlarek

    Published 2024-01-01
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  5. 5
    P006: Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in Fabry disease: 2-Year interim results from BRIGHT51

    P006: Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in Fabry disease: 2-Year interim results from BRIGHT51 by John Bernat, Myrl Holida, Nicola Longo, Ozlem Goker-Alpan, Eric Wallace, Patrick Deegan, Camilla Tondel, Francois Eyskens, Ulla Feldt-Rasmussen, Derralynn Hughes, Antonio Pisani, Ales Linhart, Rossana Rocco, Einat Almon, Sari Alon, Raul Chertkoff, David Warnock, Stephen Waldek, William Wilcox

    Published 2023-01-01
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  6. 6
    P142: Efficacy, safety and tolerability of chenodeoxycholic acid in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized, placebo-controlled phase 3 study*

    P142: Efficacy, safety and tolerability of chenodeoxycholic acid in adult patients with cerebrotendinous xanthomatosis (RESTORE): A randomized, placebo-controlled phase 3 study* by Andrea DeBarber, Yaz Kisanuki, Paulo Nobrega, Ryan Himes, Suman Jayadev, John Bernat, Vikram Prakash, James Gibson, Austin Larson, Paulo Sgobbi, Edward Murphy, Brian Fedor, Cheryl Wong Po Foo, Rana Dutta, Michael Imperiale, Jolan Terner-Rosenthal, Will Garner, Pamela Vig, P. Barton Duell, Sarah Perez, Ritesh Ramdhani, Jonas Saute

    Published 2024-01-01
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  7. 7
    P005: Head-to-head trial of pegunigalsidase alfa vs agalsidase beta in Fabry disease: Phase 3 randomized, double-blind, BALANCE Study 2-year results

    P005: Head-to-head trial of pegunigalsidase alfa vs agalsidase beta in Fabry disease: Phase 3 randomized, double-blind, BALANCE Study 2-year results by John Bernat, Eric Wallace, Ozlem Goker-Alpan, William Wilcox, Myrl Holida, Nicola Longo, Derralynn Hughes, Pilar Giraldo, Maria Molnar, Damara Ortiz, Robert Hopkin, Camilla Tondel, Ales Linhart, Patrick Deegan, Ana Jovanovic, Michael Muriello, Bruce Barshop, Virginia Kimonis, Bojan Vujkovac, Albina Nowak, Tarekegn Hiwot, Antonio Pisani, Dominique Germain, Ilkka Kantola, Jasmine Knoll, Ankit Mehta, Stephen Waldek, Einat Almon, Sari Alon, Raul Chertkoff, Rossana Rocco, David Warnock

    Published 2023-01-01
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