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Neurogenetics

Showing results (481-490 of 1,081) with videos related to

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Neurogenetics|January 22, 2024
Correction to: New Editors-in-Chief and future directions: a glimpse into the evolving future of NeurogeneticsGeraldine Zimmer-Bensch
Neurogenetics|May 31, 2018
Whole exome sequencing in Dandy-Walker variant with intellectual disability reveals an activating CIP2A mutation as novel genetic causeChin-An Yang, I-Ching Chou, Der-Yang Cho, et al.
Neurogenetics|December 19, 2009
The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selectionMichaela Wawrzik, Unga Arifa Unmehopa, Dick Frans Swaab, et al.
Neurogenetics|May 14, 2018
Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegiaMaria Steenhof, Maria Kibæk, Martin J Larsen, et al.
Neurogenetics|April 15, 2019
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556Edmund S Cauley, Ahlam Hamed, Inaam N Mohamed, et al.
Neurogenetics|March 24, 2015
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathyFelix Distelmaier, Tobias B Haack, Claudia B Catarino, et al.
Neurogenetics|February 23, 2026
EIF2AK2-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesionYasuhiro Kawai, Azusa Ikeda, Koki Nagai, et al.
Neurogenetics|February 21, 2023
Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patientsPeiwei Zhao, Qingjie Meng, Chunhui Wan, et al.
Neurogenetics|November 19, 2022
Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from SlovakiaM Juhosová, J Chandoga, F Cisárik, et al.
Neurogenetics|February 20, 2026
Gene therapy for huntington's disease: advances, challenges, and future perspectivesRiya Kaushal, Mohit Yadav, Sourabh Kosey, et al.
Pageof 109

Showing results (481-490 of 1,081) with videos related to

Sort By:
Pageof 109
Neurogenetics|January 22, 2024
Correction to: New Editors-in-Chief and future directions: a glimpse into the evolving future of NeurogeneticsGeraldine Zimmer-Bensch
Neurogenetics|May 31, 2018
Whole exome sequencing in Dandy-Walker variant with intellectual disability reveals an activating CIP2A mutation as novel genetic causeChin-An Yang, I-Ching Chou, Der-Yang Cho, et al.
Neurogenetics|December 19, 2009
The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selectionMichaela Wawrzik, Unga Arifa Unmehopa, Dick Frans Swaab, et al.
Neurogenetics|May 14, 2018
Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegiaMaria Steenhof, Maria Kibæk, Martin J Larsen, et al.
Neurogenetics|April 15, 2019
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556Edmund S Cauley, Ahlam Hamed, Inaam N Mohamed, et al.
Neurogenetics|March 24, 2015
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathyFelix Distelmaier, Tobias B Haack, Claudia B Catarino, et al.
Neurogenetics|February 23, 2026
EIF2AK2-related hypomyelinating leukoencephalopathy presenting with congenital bilateral vocal cord paralysis and a spinal cord lesionYasuhiro Kawai, Azusa Ikeda, Koki Nagai, et al.
Neurogenetics|February 21, 2023
Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patientsPeiwei Zhao, Qingjie Meng, Chunhui Wan, et al.
Neurogenetics|November 19, 2022
Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from SlovakiaM Juhosová, J Chandoga, F Cisárik, et al.
Neurogenetics|February 20, 2026
Gene therapy for huntington's disease: advances, challenges, and future perspectivesRiya Kaushal, Mohit Yadav, Sourabh Kosey, et al.
Pageof 109