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Epilepsia|December 17, 2022
Intrinsic and secondary epileptogenicity in focal cortical dysplasia type IIEmma Macdonald-Laurs, Aaron E L Warren, Wei Shern Lee, et al.
Brain Communications|February 19, 2021
Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencingChloe A Stutterd, Stefanie Brock, Katrien Stouffs, et al.
Neurology|September 3, 2020
Clinical spectrum of the pentanucleotide repeat expansion in the <i>RFC1</i> gene in ataxia syndromesMaria Gisatulin, Valerija Dobricic, Christine Zühlke, et al.
Annals of Clinical and Translational Neurology|January 12, 2021
Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasiaWei Shern Lee, Sara Baldassari, Mathilde Chipaux, et al.
Medrxiv : the Preprint Server for Health Sciences|August 8, 2025
An integrated framework for functional dissection of variable expressivity in genetic disordersJiawan Sun, Serena Noss, Deepro Banerjee, et al.
Molecular Psychiatry|December 5, 2024
Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysisJonathan M Payne, Kristina M Haebich, Rebecca Mitchell, et al.
Nature Communications|April 30, 2026
Functional impact of genetic background on variable expressivity in neurodevelopmental disordersJiawan Sun, Serena Noss, Corrine Smolen, et al.
Neurology. Genetics|March 18, 2024
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathiesMatthew Coleman, Paulo Pinares-Garcia, Sarah E Stephenson, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 7, 2014
HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxiaMartin B Delatycki, Geneieve Tai, Louise Corben, et al.
Neurology. Genetics|October 30, 2016
Heterozygous mutations in <i>HSD17B4</i> cause juvenile peroxisomal D-bifunctional protein deficiencyDavid J Amor, Ashley P L Marsh, Elsdon Storey, et al.
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