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Andre E Minoche

Showing results (1-10 of 22) with videos related to

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Genes|April 30, 2021
Application of Genome Sequencing from Blood to Diagnose Mitochondrial DiseasesRocio Rius, Alison G Compton, Naomi L Baker, et al.
Genome Medicine|February 26, 2021
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing dataAndre E Minoche, Ben Lundie, Greg B Peters, et al.
Molecular Genetics and Metabolism Reports|August 11, 2018
Expanding the spectrum of <i>PEX16</i> mutations and novel insights into disease mechanismsKishore R Kumar, Gautam Wali, Ryan L Davis, et al.
Cerebellum (London, England)|May 20, 2019
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome SequencingAryun Kim, Kishore R Kumar, Ryan L Davis, et al.
Cancers|January 11, 2024
Quantitative ctDNA Detection in Hepatoblastoma: Implications for Precision MedicineSmadar Kahana-Edwin, James Torpy, Lucy E Cain, et al.
International Journal of Molecular Sciences|April 12, 2022
Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal DystrophiesBenjamin M Nash, Alan Ma, Gladys Ho, et al.
Neurology|May 31, 2022
Use of Whole-Genome Sequencing for Mitochondrial Disease DiagnosisRyan L Davis, Kishore R Kumar, Clare Puttick, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 29, 2018
Response to Brodehl et alAndre E Minoche, Claire Horvat, Renee Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2018
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathyAndre E Minoche, Claire Horvat, Renee Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2020
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial diseaseLisa G Riley, Mark J Cowley, Velimir Gayevskiy, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Genes|April 30, 2021
Application of Genome Sequencing from Blood to Diagnose Mitochondrial DiseasesRocio Rius, Alison G Compton, Naomi L Baker, et al.
Genome Medicine|February 26, 2021
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing dataAndre E Minoche, Ben Lundie, Greg B Peters, et al.
Molecular Genetics and Metabolism Reports|August 11, 2018
Expanding the spectrum of <i>PEX16</i> mutations and novel insights into disease mechanismsKishore R Kumar, Gautam Wali, Ryan L Davis, et al.
Cerebellum (London, England)|May 20, 2019
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome SequencingAryun Kim, Kishore R Kumar, Ryan L Davis, et al.
Cancers|January 11, 2024
Quantitative ctDNA Detection in Hepatoblastoma: Implications for Precision MedicineSmadar Kahana-Edwin, James Torpy, Lucy E Cain, et al.
International Journal of Molecular Sciences|April 12, 2022
Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal DystrophiesBenjamin M Nash, Alan Ma, Gladys Ho, et al.
Neurology|May 31, 2022
Use of Whole-Genome Sequencing for Mitochondrial Disease DiagnosisRyan L Davis, Kishore R Kumar, Clare Puttick, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 29, 2018
Response to Brodehl et alAndre E Minoche, Claire Horvat, Renee Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 3, 2018
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathyAndre E Minoche, Claire Horvat, Renee Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 22, 2020
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial diseaseLisa G Riley, Mark J Cowley, Velimir Gayevskiy, et al.
Pageof 3