Search Results - "Gill, Inderpal"
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1
Expanding the genotype-phenotype spectrum in SCN8A-related disorders
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
Targeted Whole Exome Sequencing in Children With Early-Onset Epilepsy: Parent Experiences
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