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Neurology. Genetics

Showing results (671-680 of 842) with videos related to

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Neurology. Genetics|September 22, 2018
Copy number variation analysis increases the diagnostic yield in muscle diseasesSalla Välipakka, Marco Savarese, Mridul Johari, et al.
Neurology. Genetics|October 5, 2018
Genetic landscape of pediatric movement disorders and management implicationsDawn Cordeiro, Garrett Bullivant, Komudi Siriwardena, et al.
Neurology. Genetics|February 25, 2022
Erratum: Migraine, Stroke, and Cervical Arterial Dissection: Shared Genetics for a Triad of Brain Disorders With Vascular Involvement
Neurology. Genetics|March 7, 2022
Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial GenomeMarius Hippen, Gábor Zsurka, Viktoriya Peeva, et al.
Neurology. Genetics|September 8, 2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter studyElizabeth Harris, Catherine L Bladen, Anna Mayhew, et al.
Neurology. Genetics|August 31, 2016
Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndromeAravindhan Veerapandiyan, Amit Chaudhari, Christin M Traba, et al.
Neurology. Genetics|September 27, 2016
Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTDJulie van der Zee, Peter Mariën, Roeland Crols, et al.
Neurology. Genetics|September 27, 2016
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disabilitySofia Steinrücke, Katja Lohmann, Aloysius Domingo, et al.
Neurology. Genetics|June 16, 2018
Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosisJohn K L Wong, Hongsheng Gui, Maxwell Kwok, et al.
Neurology. Genetics|November 30, 2016
Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathyYuji Takahashi, Masahiro Kanai, Tomoya Taminato, et al.
Pageof 85

Showing results (671-680 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|September 22, 2018
Copy number variation analysis increases the diagnostic yield in muscle diseasesSalla Välipakka, Marco Savarese, Mridul Johari, et al.
Neurology. Genetics|October 5, 2018
Genetic landscape of pediatric movement disorders and management implicationsDawn Cordeiro, Garrett Bullivant, Komudi Siriwardena, et al.
Neurology. Genetics|February 25, 2022
Erratum: Migraine, Stroke, and Cervical Arterial Dissection: Shared Genetics for a Triad of Brain Disorders With Vascular Involvement
Neurology. Genetics|March 7, 2022
Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial GenomeMarius Hippen, Gábor Zsurka, Viktoriya Peeva, et al.
Neurology. Genetics|September 8, 2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter studyElizabeth Harris, Catherine L Bladen, Anna Mayhew, et al.
Neurology. Genetics|August 31, 2016
Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndromeAravindhan Veerapandiyan, Amit Chaudhari, Christin M Traba, et al.
Neurology. Genetics|September 27, 2016
Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTDJulie van der Zee, Peter Mariën, Roeland Crols, et al.
Neurology. Genetics|September 27, 2016
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disabilitySofia Steinrücke, Katja Lohmann, Aloysius Domingo, et al.
Neurology. Genetics|June 16, 2018
Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosisJohn K L Wong, Hongsheng Gui, Maxwell Kwok, et al.
Neurology. Genetics|November 30, 2016
Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathyYuji Takahashi, Masahiro Kanai, Tomoya Taminato, et al.
Pageof 85