Search Results - Emma Footitt

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    Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre by Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Anupam Chakrapani, Emma Footitt, Helen Prunty, Melanie McSweeney

    Published in JIMD Reports (2023-09-01)
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    Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing by William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly

    Published in Nature Communications (2022-11-01)
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