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Matthew Bower

Showing results (31-40 of 42) with videos related to

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BMC Research Notes|June 3, 2014
Implementation of Cloud based next generation sequencing data analysis in a clinical laboratoryGetiria Onsongo, Jesse Erdmann, Michael D Spears, et al.
Cerebellum (London, England)|April 25, 2026
MT-ATP6 9035T>C Variant Causes Ataxia With Azoospermia and Apparent Anticipation in a Four-generation KindredChangrui Xiao, David Zhu, Jon Pryor, et al.
Archives of Pathology & Laboratory Medicine|January 23, 2015
Clinical validation of targeted next-generation sequencing for inherited disordersSophia Yohe, Adam Hauge, Kari Bunjer, et al.
Human Mutation|March 19, 2013
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnosticsDimitre R Simeonov, Xinjing Wang, Chen Wang, et al.
Frontiers in Genetics|May 19, 2025
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosisSiddhartha Sen, Hillary P Handler, Alec Victorsen, et al.
Human Mutation|September 18, 2010
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutationsJuergen Scharner, Charlotte A Brown, Matthew Bower, et al.
Neurology. Genetics|March 28, 2018
Truncating <i>SLC5A7</i> mutations underlie a spectrum of dominant hereditary motor neuropathiesClaire G Salter, Danique Beijer, Holly Hardy, et al.
Molecular Genetics and Metabolism Reports|March 21, 2019
Next generation sequencing for clinical diagnostics: Five year experience of an academic laboratoryPaige Hartman, Kenneth Beckman, Kevin Silverstein, et al.
Annals of Neurology|September 12, 2024
Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)Widad Abou Chaar, Anirudh N Eranki, Hannah A Stevens, et al.
Human Molecular Genetics|October 18, 2017
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophyYanyan Peng, Deepali N Shinde, C Alexander Valencia, et al.
Pageof 5

Showing results (31-40 of 42) with videos related to

Sort By:
Pageof 5
BMC Research Notes|June 3, 2014
Implementation of Cloud based next generation sequencing data analysis in a clinical laboratoryGetiria Onsongo, Jesse Erdmann, Michael D Spears, et al.
Cerebellum (London, England)|April 25, 2026
MT-ATP6 9035T>C Variant Causes Ataxia With Azoospermia and Apparent Anticipation in a Four-generation KindredChangrui Xiao, David Zhu, Jon Pryor, et al.
Archives of Pathology & Laboratory Medicine|January 23, 2015
Clinical validation of targeted next-generation sequencing for inherited disordersSophia Yohe, Adam Hauge, Kari Bunjer, et al.
Human Mutation|March 19, 2013
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnosticsDimitre R Simeonov, Xinjing Wang, Chen Wang, et al.
Frontiers in Genetics|May 19, 2025
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosisSiddhartha Sen, Hillary P Handler, Alec Victorsen, et al.
Human Mutation|September 18, 2010
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutationsJuergen Scharner, Charlotte A Brown, Matthew Bower, et al.
Neurology. Genetics|March 28, 2018
Truncating <i>SLC5A7</i> mutations underlie a spectrum of dominant hereditary motor neuropathiesClaire G Salter, Danique Beijer, Holly Hardy, et al.
Molecular Genetics and Metabolism Reports|March 21, 2019
Next generation sequencing for clinical diagnostics: Five year experience of an academic laboratoryPaige Hartman, Kenneth Beckman, Kevin Silverstein, et al.
Annals of Neurology|September 12, 2024
Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)Widad Abou Chaar, Anirudh N Eranki, Hannah A Stevens, et al.
Human Molecular Genetics|October 18, 2017
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophyYanyan Peng, Deepali N Shinde, C Alexander Valencia, et al.
Pageof 5