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Neurogenetics

Showing results (311-320 of 1,080) with videos related to

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Neurogenetics|April 24, 2016
Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1Fedor A Platonov, Kathrin Tyryshkin, Dmitriy G Tikhonov, et al.
Neurogenetics|August 29, 2015
Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodulesT M Pierson, Mani Nezhad, Matthew A Tremblay, et al.
Neurogenetics|June 20, 2016
Transcriptional regulation of long-term potentiationNicola Bliim, Iryna Leshchyns'ka, Vladimir Sytnyk, et al.
Neurogenetics|April 26, 2018
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genesLorena Travaglini, Chiara Aiello, Fabrizia Stregapede, et al.
Neurogenetics|October 30, 2021
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotypeHongzhu Chen, Niu Li, Yufei Xu, et al.
Neurogenetics|October 5, 2021
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genesRaffaella Brugnoni, Eleonora Canioni, Massimiliano Filosto, et al.
Neurogenetics|June 19, 2019
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpressionMaria Teresa Bonati, Chiara Castronovo, Alessandra Sironi, et al.
Neurogenetics|July 4, 2019
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findingsMarcello Scala, Giorgia Brigati, Chiara Fiorillo, et al.
Neurogenetics|February 14, 2022
Experiences in the molecular genetic and histopathological evaluation of calpainopathiesBerk Ozyilmaz, Ozgur Kirbiyik, Taha R Ozdemir, et al.
Neurogenetics|January 26, 2022
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutationsSteffi Thust, Liana Veneziano, Michael H Parkinson, et al.
Pageof 108

Showing results (311-320 of 1,080) with videos related to

Sort By:
Pageof 108
Neurogenetics|April 24, 2016
Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1Fedor A Platonov, Kathrin Tyryshkin, Dmitriy G Tikhonov, et al.
Neurogenetics|August 29, 2015
Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodulesT M Pierson, Mani Nezhad, Matthew A Tremblay, et al.
Neurogenetics|June 20, 2016
Transcriptional regulation of long-term potentiationNicola Bliim, Iryna Leshchyns'ka, Vladimir Sytnyk, et al.
Neurogenetics|April 26, 2018
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genesLorena Travaglini, Chiara Aiello, Fabrizia Stregapede, et al.
Neurogenetics|October 30, 2021
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotypeHongzhu Chen, Niu Li, Yufei Xu, et al.
Neurogenetics|October 5, 2021
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genesRaffaella Brugnoni, Eleonora Canioni, Massimiliano Filosto, et al.
Neurogenetics|June 19, 2019
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpressionMaria Teresa Bonati, Chiara Castronovo, Alessandra Sironi, et al.
Neurogenetics|July 4, 2019
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findingsMarcello Scala, Giorgia Brigati, Chiara Fiorillo, et al.
Neurogenetics|February 14, 2022
Experiences in the molecular genetic and histopathological evaluation of calpainopathiesBerk Ozyilmaz, Ozgur Kirbiyik, Taha R Ozdemir, et al.
Neurogenetics|January 26, 2022
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutationsSteffi Thust, Liana Veneziano, Michael H Parkinson, et al.
Pageof 108