Search Results - Lamont, Philipa

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  1. 1
    Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy

    Identification of a novel heterozygous DYSF variant in a large family with a dominantly‐inherited dysferlinopathy by Folland, Chiara, Johnsen, Russell, Botero Gomez, Adriana, Trajanoski, Daniel, Davis, Mark R., Moore, Ursula, Straub, Volker, Barresi, Rita, Guglieri, Michela, Hayhurst, Hannah, Schaefer, Andrew M., Laing, Nigel G., Lamont, Philipa J., Ravenscroft, Gianina

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  2. 2
    Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype: A Case Report

    Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype: A Case Report by Ashton, Catherine, Davis, Mark, Laing, Nigel, Ravenscroft, Gianina, Lamont, Philipa

    Published in Neurology. Genetics
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