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Brain Communications|March 13, 2026
CACNB3 defects are associated with infantile idiopathic nystagmusChristoph Jüschke, Kira Linsel, Marta Owczarek-Lipska, et al.
Plos Genetics|April 5, 2014
CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemiaFrancisco J Arjona, Jeroen H F de Baaij, Karl P Schlingmann, et al.
International Journal of Molecular Sciences|April 3, 2021
Refining Genotypes and Phenotypes in KCNA2-Related Neurological DisordersJan H Döring, Julian Schröter, Jerome Jüngling, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 7, 2020
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxiaSimone Schröder, Yun Li, Gökhan Yigit, et al.
Nature Genetics|September 17, 2013
A de novo gain-of-function mutation in SCN11A causes loss of pain perceptionEnrico Leipold, Lutz Liebmann, G Christoph Korenke, et al.
Iscience|February 3, 2025
Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile ciliaJacqueline E Taudien, Diana Bracht, Heike Olbrich, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 10, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4Philip Harrer, Volker Kittke, Alice Saparov, et al.
American Journal of Human Genetics|May 10, 2011
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxiaMark A Corbett, Michael Schwake, Melanie Bahlo, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 1, 2025
Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and IchthyosisKeit Men Wong, Reza Maroofian, Kolja Meier, et al.
Molecular Genetics and Metabolism|July 11, 2017
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiencySarah Catharina Grünert, Robert Niklas Schmitt, Sonja Marina Schlatter, et al.
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