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Stephan Zuchner

Showing results (1-10 of 149) with videos related to

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Genome Medicine|June 5, 2013
Improved coverage and accuracy with strand-conserving sequence enrichmentToumy Guettouche, Stephan Zuchner
Annals of Neurology|September 13, 2016
A novel missense mutation of CMT2P alters transcription machineryBo Hu, Sezgi Arpag, Stephan Zuchner, et al.
Human Mutation|December 24, 2016
Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic DeletionsAmir Jahic, Sophie Hinreiner, Werner Emberger, et al.
Handbook of Clinical Neurology|February 22, 2023
Peripheral neuropathy in mitochondrial diseaseRita Horvath, Jessica Medina, Mary M Reilly, et al.
Human Mutation|July 16, 2015
Innovative genomic collaboration using the GENESIS (GEM.app) platformMichael Gonzalez, Marni J Falk, Xiaowu Gai, et al.
Stem Cell Research|May 26, 2024
Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathyChristopher Yanick, Renata Maciel, Elizabeth Jacobs, et al.
Clinical and Translational Medicine|January 27, 2024
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxiaDavid Pellerin, Matt C Danzi, Mathilde Renaud, et al.
Neurology. Genetics|February 3, 2026
Expanding the Genetic Landscape of Congenital Insensitivity to PainTheeraphong Pho-Iam, Pimchanok Kulsirichawaroj, Surachai Likasitwattanakul, et al.
Nature Communications|May 3, 2025
Genetic ancestry and population structure in the All of Us Research Program cohortShivam Sharma, Shashwat Deepali Nagar, Priscilla Pemu, et al.
Journal of the Peripheral Nervous System : JPNS|October 12, 2022
Conduction block and temporal dispersion in a SIGMAR1-related neuropathyRodrigo Siqueira Soares Frezatti, Pedro José Tomaselli, Fernanda Barbosa Figueiredo, et al.
Pageof 15

Showing results (1-10 of 149) with videos related to

Sort By:
Pageof 15
Genome Medicine|June 5, 2013
Improved coverage and accuracy with strand-conserving sequence enrichmentToumy Guettouche, Stephan Zuchner
Annals of Neurology|September 13, 2016
A novel missense mutation of CMT2P alters transcription machineryBo Hu, Sezgi Arpag, Stephan Zuchner, et al.
Human Mutation|December 24, 2016
Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic DeletionsAmir Jahic, Sophie Hinreiner, Werner Emberger, et al.
Handbook of Clinical Neurology|February 22, 2023
Peripheral neuropathy in mitochondrial diseaseRita Horvath, Jessica Medina, Mary M Reilly, et al.
Human Mutation|July 16, 2015
Innovative genomic collaboration using the GENESIS (GEM.app) platformMichael Gonzalez, Marni J Falk, Xiaowu Gai, et al.
Stem Cell Research|May 26, 2024
Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathyChristopher Yanick, Renata Maciel, Elizabeth Jacobs, et al.
Clinical and Translational Medicine|January 27, 2024
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxiaDavid Pellerin, Matt C Danzi, Mathilde Renaud, et al.
Neurology. Genetics|February 3, 2026
Expanding the Genetic Landscape of Congenital Insensitivity to PainTheeraphong Pho-Iam, Pimchanok Kulsirichawaroj, Surachai Likasitwattanakul, et al.
Nature Communications|May 3, 2025
Genetic ancestry and population structure in the All of Us Research Program cohortShivam Sharma, Shashwat Deepali Nagar, Priscilla Pemu, et al.
Journal of the Peripheral Nervous System : JPNS|October 12, 2022
Conduction block and temporal dispersion in a SIGMAR1-related neuropathyRodrigo Siqueira Soares Frezatti, Pedro José Tomaselli, Fernanda Barbosa Figueiredo, et al.
Pageof 15