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Neurology. Genetics

Showing results (681-690 of 842) with videos related to

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Neurology. Genetics|April 17, 2023
Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating <i>LAMB1</i> VariationsHélène Morel, Laurent Bailly, Cédric Urbanczyk, et al.
Neurology. Genetics|April 24, 2023
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 DeficiencyEdoardo Monfrini, Alba Pesini, Fabio Biella, et al.
Neurology. Genetics|April 24, 2023
Neurologic, Neuropsychologic, and Neuroradiologic Features of <i>EBF3</i>-Related SyndromeClaudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, et al.
Neurology. Genetics|July 9, 2020
Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma geneYing Hong, Annette Keylock, Barbara Jensen, et al.
Neurology. Genetics|August 6, 2020
Expanded genetic insight and clinical experience of DNMT1-complex disorderHongyan Bi, Kaori Hojo, Masashi Watanabe, et al.
Neurology. Genetics|August 6, 2020
<i>SLC12A2</i> mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epitheliaTommy Stödberg, Måns Magnusson, Nicole Lesko, et al.
Neurology. Genetics|April 20, 2023
Novel Homozygous Variant in <i>COQ7</i> in Siblings With Hereditary Motor NeuropathyIan C Smith, Chantal A Pileggi, Ying Wang, et al.
Neurology. Genetics|August 18, 2020
Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiencyAlbert L Misko, Ye Liang, Joshua B Kohl, et al.
Neurology. Genetics|August 18, 2020
Genetic risk scores and hallucinations in patients with Parkinson diseaseCynthia D J Kusters, Kimberly C Paul, Aline Duarte Folle, et al.
Neurology. Genetics|August 18, 2020
Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathyWilliam W Motley, Stephan Züchner, Steven S Scherer
Pageof 85

Showing results (681-690 of 842) with videos related to

Sort By:
Pageof 85
Neurology. Genetics|April 17, 2023
Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating <i>LAMB1</i> VariationsHélène Morel, Laurent Bailly, Cédric Urbanczyk, et al.
Neurology. Genetics|April 24, 2023
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 DeficiencyEdoardo Monfrini, Alba Pesini, Fabio Biella, et al.
Neurology. Genetics|April 24, 2023
Neurologic, Neuropsychologic, and Neuroradiologic Features of <i>EBF3</i>-Related SyndromeClaudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, et al.
Neurology. Genetics|July 9, 2020
Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma geneYing Hong, Annette Keylock, Barbara Jensen, et al.
Neurology. Genetics|August 6, 2020
Expanded genetic insight and clinical experience of DNMT1-complex disorderHongyan Bi, Kaori Hojo, Masashi Watanabe, et al.
Neurology. Genetics|August 6, 2020
<i>SLC12A2</i> mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epitheliaTommy Stödberg, Måns Magnusson, Nicole Lesko, et al.
Neurology. Genetics|April 20, 2023
Novel Homozygous Variant in <i>COQ7</i> in Siblings With Hereditary Motor NeuropathyIan C Smith, Chantal A Pileggi, Ying Wang, et al.
Neurology. Genetics|August 18, 2020
Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiencyAlbert L Misko, Ye Liang, Joshua B Kohl, et al.
Neurology. Genetics|August 18, 2020
Genetic risk scores and hallucinations in patients with Parkinson diseaseCynthia D J Kusters, Kimberly C Paul, Aline Duarte Folle, et al.
Neurology. Genetics|August 18, 2020
Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathyWilliam W Motley, Stephan Züchner, Steven S Scherer
Pageof 85