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Neurology. Genetics

Showing results (51-60 of 1,011) with videos related to

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Neurology. Genetics|November 20, 2019
Erratum: Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy
Neurology. Genetics|November 20, 2019
Deoxysphingolipids as candidate biomarkers for a novel <i>SPTLC1</i> mutation associated with HSAN-IFederica Boso, Andrea Armirotti, Federica Taioli, et al.
Neurology. Genetics|November 30, 2017
The Alzheimer's Disease Sequencing Project: Study design and sample selectionGary W Beecham, J C Bis, E R Martin, et al.
Neurology. Genetics|December 22, 2017
Characterization of a <i>KCNB1</i> variant associated with autism, intellectual disability, and epilepsyJeffrey D Calhoun, Carlos G Vanoye, Fernando Kok, et al.
Neurology. Genetics|December 22, 2017
Opening One's Eyes to Mosaicism in Progressive External OphthalmoplegiaEwen W Sommerville, Rachel L Jones, Steven A Hardy, et al.
Neurology. Genetics|December 22, 2017
Novel <i>NDUFS4</i> gene mutation in an atypical late-onset mitochondrial form of multifocal dystoniaCeline Bris, Tiphaine Rouaud, Valerie Desquiret-Dumas, et al.
Neurology. Genetics|December 22, 2017
Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutationsCarla Marini, Michele Romoli, Elena Parrini, et al.
Neurology. Genetics|December 25, 2019
Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variabilityGiulia Barcia, Nicole Chemaly, Mathieu Kuchenbuch, et al.
Neurology. Genetics|December 25, 2019
Migraine polygenic risk score associates with efficacy of migraine-specific drugsLisette J A Kogelman, Ann-Louise Esserlind, Anne Francke Christensen, et al.
Neurology. Genetics|December 25, 2019
Yield of comparative genomic hybridization microarray in pediatric neurology practiceShibalik Misra, Greg Peters, Elizabeth Barnes, et al.
Pageof 102

Showing results (51-60 of 1,011) with videos related to

Sort By:
Pageof 102
Neurology. Genetics|November 20, 2019
Erratum: Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy
Neurology. Genetics|November 20, 2019
Deoxysphingolipids as candidate biomarkers for a novel <i>SPTLC1</i> mutation associated with HSAN-IFederica Boso, Andrea Armirotti, Federica Taioli, et al.
Neurology. Genetics|November 30, 2017
The Alzheimer's Disease Sequencing Project: Study design and sample selectionGary W Beecham, J C Bis, E R Martin, et al.
Neurology. Genetics|December 22, 2017
Characterization of a <i>KCNB1</i> variant associated with autism, intellectual disability, and epilepsyJeffrey D Calhoun, Carlos G Vanoye, Fernando Kok, et al.
Neurology. Genetics|December 22, 2017
Opening One's Eyes to Mosaicism in Progressive External OphthalmoplegiaEwen W Sommerville, Rachel L Jones, Steven A Hardy, et al.
Neurology. Genetics|December 22, 2017
Novel <i>NDUFS4</i> gene mutation in an atypical late-onset mitochondrial form of multifocal dystoniaCeline Bris, Tiphaine Rouaud, Valerie Desquiret-Dumas, et al.
Neurology. Genetics|December 22, 2017
Clinical features and outcome of 6 new patients carrying de novo <i>KCNB1</i> gene mutationsCarla Marini, Michele Romoli, Elena Parrini, et al.
Neurology. Genetics|December 25, 2019
Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variabilityGiulia Barcia, Nicole Chemaly, Mathieu Kuchenbuch, et al.
Neurology. Genetics|December 25, 2019
Migraine polygenic risk score associates with efficacy of migraine-specific drugsLisette J A Kogelman, Ann-Louise Esserlind, Anne Francke Christensen, et al.
Neurology. Genetics|December 25, 2019
Yield of comparative genomic hybridization microarray in pediatric neurology practiceShibalik Misra, Greg Peters, Elizabeth Barnes, et al.
Pageof 102