Search Results - "Gill, Inderpal"

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  1. 1

    Expanding the genotype-phenotype spectrum in SCN8A-related disorders by Hebbar, Malavika, Al-Taweel, Nawaf, Gill, Inderpal, Boelman, Cyrus, Dean, Richard A, Goodchild, Samuel J, Mezeyova, Janette, Shuart, Noah Gregory, Johnson, Jr, J P, Lee, James, Michoulas, Aspasia, Huh, Linda L, Armstrong, Linlea, Connolly, Mary B, Demos, Michelle K

    Published in BMC neurology (17-01-2024)
    “…SCN8A-related disorders are a group of variable conditions caused by pathogenic variations in SCN8A. Online Mendelian Inheritance in Man (OMIM) terms them as…”
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    Journal Article
  2. 2

    Targeted Whole Exome Sequencing in Children With Early-Onset Epilepsy: Parent Experiences by Alam, Armaghan, Parfyonov, Maksim, Huang, Camille Y., Gill, Inderpal, Connolly, Mary B., Illes, Judy

    Published in Journal of child neurology (01-10-2022)
    “…This study investigated the experiences of 25 caregivers of children with early-onset, treatment-resistant epilepsy who pursued whole exome sequencing to…”
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    Journal Article