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Stephan Züchner

Showing results (91-100 of 198) with videos related to

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Genome Biology|January 31, 2024
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat lociSarah Fazal, Matt C Danzi, Isaac Xu, et al.
Human Mutation|June 19, 2007
Effect of heterogeneity on the chromosome 10 risk in late-onset Alzheimer diseaseXueying Liang, Eden R Martin, Nathalie Schnetz-Boutaud, et al.
Brain Communications|June 9, 2025
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxiaWai Yan Yau, Roisin Sullivan, Emer O'Connor, et al.
JCI Insight|April 4, 2023
Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiencyYi Zhu, Amanda G Lobato, Adriana P Rebelo, et al.
Acta Neuropathologica Communications|July 16, 2017
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal deathArnaud Jacquier, Cécile Delorme, Edwige Belotti, et al.
Neurology|April 8, 2018
Unique clinical and neurophysiologic profile of a cohort of children with CMTX3Manoj Kanhangad, Kayla Cornett, Megan H Brewer, et al.
Plos One|December 17, 2009
Exome sequencing of a multigenerational human pedigreeDale J Hedges, Dale Hedges, Dan Burges, et al.
Neurology. Genetics|April 5, 2017
<i>CNTNAP1</i> mutations cause CNS hypomyelination and neuropathy with or without arthrogryposisHolger Hengel, Alex Magee, Muhammad Mahanjah, et al.
American Journal of Human Genetics|March 1, 2011
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathyNadine Norton, Duanxiang Li, Mark J Rieder, et al.
Plos One|January 12, 2012
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other familiesMilen Velinov, Natalia Dolzhanskaya, Michael Gonzalez, et al.
Pageof 20

Showing results (91-100 of 198) with videos related to

Sort By:
Pageof 20
Genome Biology|January 31, 2024
RExPRT: a machine learning tool to predict pathogenicity of tandem repeat lociSarah Fazal, Matt C Danzi, Isaac Xu, et al.
Human Mutation|June 19, 2007
Effect of heterogeneity on the chromosome 10 risk in late-onset Alzheimer diseaseXueying Liang, Eden R Martin, Nathalie Schnetz-Boutaud, et al.
Brain Communications|June 9, 2025
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxiaWai Yan Yau, Roisin Sullivan, Emer O'Connor, et al.
JCI Insight|April 4, 2023
Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiencyYi Zhu, Amanda G Lobato, Adriana P Rebelo, et al.
Acta Neuropathologica Communications|July 16, 2017
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal deathArnaud Jacquier, Cécile Delorme, Edwige Belotti, et al.
Neurology|April 8, 2018
Unique clinical and neurophysiologic profile of a cohort of children with CMTX3Manoj Kanhangad, Kayla Cornett, Megan H Brewer, et al.
Plos One|December 17, 2009
Exome sequencing of a multigenerational human pedigreeDale J Hedges, Dale Hedges, Dan Burges, et al.
Neurology. Genetics|April 5, 2017
<i>CNTNAP1</i> mutations cause CNS hypomyelination and neuropathy with or without arthrogryposisHolger Hengel, Alex Magee, Muhammad Mahanjah, et al.
American Journal of Human Genetics|March 1, 2011
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathyNadine Norton, Duanxiang Li, Mark J Rieder, et al.
Plos One|January 12, 2012
Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other familiesMilen Velinov, Natalia Dolzhanskaya, Michael Gonzalez, et al.
Pageof 20