Showing 1 - 4 results of 4 for search 'Jacquelyn Britton', query time: 0.02s Refine Results
  1. 1
    P035: Metabolic profiling of cytosolic phosphoenolpyruvate carboxykinase (PEPCK1) deficiency associated with a novel homozygous missense variant in PCK1

    P035: Metabolic profiling of cytosolic phosphoenolpyruvate carboxykinase (PEPCK1) deficiency associated with a novel homozygous missense variant in PCK1 by Jeffrey Ehmsen, Nadav Weinstock, Shira Ziegler, Jacquelyn Britton, Tao Wang, Hilary Vernon

    Published 2024-01-01
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  2. 2
    P784: Prenatal and perinatal features of a type 2 collagenopathy and COL2A1 variant

    P784: Prenatal and perinatal features of a type 2 collagenopathy and COL2A1 variant by Lisa McNamee, Jacquelyn Britton, Michelle Kush, Bobby Brar, Sarah Millard, Julie Hoover-Fong

    Published 2024-01-01
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  3. 3
    P444: Novel RET variant in two unrelated patients with Hirschsprung disease and congenital anomalies of kidney and urinary tract

    P444: Novel RET variant in two unrelated patients with Hirschsprung disease and congenital anomalies of kidney and urinary tract by Ozlem Turedi, Jessica Tenney, Jacquelyn Britton, Lauren Meiss, Sonja Rasmussen, Erica Winnicki, Vivien Nguyen, Molly Sheridan, Dane Witmer

    Published 2024-01-01
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  4. 4
    The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem

    The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem by RaeLynn Forsyth, Ryan H. Peretz, Angela Dempsey, Jacquelyn Britton, Lisa Kratz, Ada Hamosh, Hilary Vernon, Mark L. Batshaw, David Valle

    Published 2023-05-01
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