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Neurology. Genetics

Showing results (561-570 of 842) with videos related to

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Neurology. Genetics|January 30, 2023
Clinical Manifestation of Nebulin-Associated Nemaline MyopathyCristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, et al.
Neurology. Genetics|November 16, 2022
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of LatviaBaiba Lace, Ieva Micule, Viktorija Kenina, et al.
Neurology. Genetics|August 6, 2020
Congenital myasthenic syndrome caused by a frameshift insertion mutation in <i>GFPT1</i>Szabolcs Szelinger, Jonida Krate, Keri Ramsey, et al.
Neurology. Genetics|July 9, 2020
Somatic <i>SLC35A2</i> mosaicism correlates with clinical findings in epilepsy brain tissueKatherine E Miller, Daniel C Koboldt, Kathleen M Schieffer, et al.
Neurology. Genetics|July 9, 2020
COX deficiency and leukoencephalopathy due to a novel homozygous <i>APOPT1/COA8</i> mutationCarola Hedberg-Oldfors, Niklas Darin, Christer Thomsen, et al.
Neurology. Genetics|June 26, 2020
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published casesGeorgia Xiromerisiou, Chrysoula Marogianni, Katerina Dadouli, et al.
Neurology. Genetics|November 1, 2021
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> GenePeter Hackman, Salla M Rusanen, Mridul Johari, et al.
Neurology. Genetics|April 14, 2023
Cerebellar Ataxia and Peripheral Neuropathy in a Family With <i>PNPLA8</i>-Associated DiseaseBirute Burnyte, Ramune Vilimiene, Kristina Grigalioniene, et al.
Neurology. Genetics|April 14, 2023
<i>SON</i>-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine: Putative Role of <i>PRRT2</i>Jordan Langford, Lana Vukadin, John C Carey, et al.
Neurology. Genetics|May 8, 2023
Distinguishing Loss-of-Function and Gain-of-Function <i>SCN8A</i> Variants Using a Random Forest Classification Model Trained on Clinical FeaturesJoshua B Hack, Kyle Horning, Denise M Juroske Short, et al.
Pageof 85

Showing results (561-570 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|January 30, 2023
Clinical Manifestation of Nebulin-Associated Nemaline MyopathyCristiane Araujo Martins Moreno, Mariana Cunha Artilheiro, Alulin Tacio Quadros Santos Monteiro Fonseca, et al.
Neurology. Genetics|November 16, 2022
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of LatviaBaiba Lace, Ieva Micule, Viktorija Kenina, et al.
Neurology. Genetics|August 6, 2020
Congenital myasthenic syndrome caused by a frameshift insertion mutation in <i>GFPT1</i>Szabolcs Szelinger, Jonida Krate, Keri Ramsey, et al.
Neurology. Genetics|July 9, 2020
Somatic <i>SLC35A2</i> mosaicism correlates with clinical findings in epilepsy brain tissueKatherine E Miller, Daniel C Koboldt, Kathleen M Schieffer, et al.
Neurology. Genetics|July 9, 2020
COX deficiency and leukoencephalopathy due to a novel homozygous <i>APOPT1/COA8</i> mutationCarola Hedberg-Oldfors, Niklas Darin, Christer Thomsen, et al.
Neurology. Genetics|June 26, 2020
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published casesGeorgia Xiromerisiou, Chrysoula Marogianni, Katerina Dadouli, et al.
Neurology. Genetics|November 1, 2021
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> GenePeter Hackman, Salla M Rusanen, Mridul Johari, et al.
Neurology. Genetics|April 14, 2023
Cerebellar Ataxia and Peripheral Neuropathy in a Family With <i>PNPLA8</i>-Associated DiseaseBirute Burnyte, Ramune Vilimiene, Kristina Grigalioniene, et al.
Neurology. Genetics|April 14, 2023
<i>SON</i>-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine: Putative Role of <i>PRRT2</i>Jordan Langford, Lana Vukadin, John C Carey, et al.
Neurology. Genetics|May 8, 2023
Distinguishing Loss-of-Function and Gain-of-Function <i>SCN8A</i> Variants Using a Random Forest Classification Model Trained on Clinical FeaturesJoshua B Hack, Kyle Horning, Denise M Juroske Short, et al.
Pageof 85