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Showing results (251-260 of 284) with videos related to

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Brain : a Journal of Neurology|August 30, 2023
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysisArthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, et al.
Brain : a Journal of Neurology|January 25, 2018
De novo mutations in GRIN1 cause extensive bilateral polymicrogyriaAndrew E Fry, Katherine A Fawcett, Nathanel Zelnik, et al.
Molecular Genetics & Genomic Medicine|July 29, 2016
Pitfalls in genetic testing: the story of missed SCN1A mutationsTania Djémié, Sarah Weckhuysen, Sarah von Spiczak, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Structural mapping of GABRB3 variants reveals genotype-phenotype correlationsKatrine M Johannesen, Sumaiya Iqbal, Milena Guazzi, et al.
Nature Genetics|March 10, 2015
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathySteffen Syrbe, Ulrike B S Hedrich, Erik Riesch, et al.
Brain : a Journal of Neurology|July 22, 2019
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain sizeDiana Le Duc, Cecilia Giulivi, Susan M Hiatt, et al.
American Journal of Human Genetics|July 13, 2022
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcificationsErik Rosenhahn, Thomas J O'Brien, Maha S Zaki, et al.
Nature Genetics|November 3, 2014
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromesJulian Schubert, Aleksandra Siekierska, Mélanie Langlois, et al.
Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
Neurology|July 5, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in <i>STXBP1</i>Kim M Thalwitzer, Jan H Driedger, Julie Xian, et al.
Pageof 29

Showing results (251-260 of 284) with videos related to

Sort By:
Pageof 29
Brain : a Journal of Neurology|August 30, 2023
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysisArthur Stefanski, Eduardo Pérez-Palma, Tobias Brünger, et al.
Brain : a Journal of Neurology|January 25, 2018
De novo mutations in GRIN1 cause extensive bilateral polymicrogyriaAndrew E Fry, Katherine A Fawcett, Nathanel Zelnik, et al.
Molecular Genetics & Genomic Medicine|July 29, 2016
Pitfalls in genetic testing: the story of missed SCN1A mutationsTania Djémié, Sarah Weckhuysen, Sarah von Spiczak, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Structural mapping of GABRB3 variants reveals genotype-phenotype correlationsKatrine M Johannesen, Sumaiya Iqbal, Milena Guazzi, et al.
Nature Genetics|March 10, 2015
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathySteffen Syrbe, Ulrike B S Hedrich, Erik Riesch, et al.
Brain : a Journal of Neurology|July 22, 2019
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain sizeDiana Le Duc, Cecilia Giulivi, Susan M Hiatt, et al.
American Journal of Human Genetics|July 13, 2022
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcificationsErik Rosenhahn, Thomas J O'Brien, Maha S Zaki, et al.
Nature Genetics|November 3, 2014
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromesJulian Schubert, Aleksandra Siekierska, Mélanie Langlois, et al.
Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
Neurology|July 5, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in <i>STXBP1</i>Kim M Thalwitzer, Jan H Driedger, Julie Xian, et al.
Pageof 29