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Richard J Rodenburg

Showing results (111-120 of 137) with videos related to

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Nature Genetics|December 20, 2017
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosisArjan Pol, G Herma Renkema, Albert Tangerman, et al.
Journal of Medical Genetics|September 9, 2019
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathyRowida Almomani, Johanna C Herkert, Anna Posafalvi, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|July 16, 2023
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvementElianne P Bulthuis, Merel J W Adjobo-Hermans, Bastiaan de Potter, et al.
The Journal of Clinical Investigation|May 26, 2022
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesisJonathan Shintaku, Wolfgang M Pernice, Wafaa Eyaid, et al.
American Journal of Human Genetics|September 2, 2014
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiencyLaura Melchionda, Tobias B Haack, Steven Hardy, et al.
American Journal of Human Genetics|February 3, 2016
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal GlycosylationJos C Jansen, Sharita Timal, Monique van Scherpenzeel, et al.
American Journal of Human Genetics|December 3, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
American Journal of Human Genetics|October 4, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
American Journal of Human Genetics|August 1, 2017
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal EncephalopathyFlorence Habarou, Yamina Hamel, Tobias B Haack, et al.
American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex DeficienciesThatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, et al.
Pageof 14

Showing results (111-120 of 137) with videos related to

Sort By:
Pageof 14
Nature Genetics|December 20, 2017
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosisArjan Pol, G Herma Renkema, Albert Tangerman, et al.
Journal of Medical Genetics|September 9, 2019
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathyRowida Almomani, Johanna C Herkert, Anna Posafalvi, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|July 16, 2023
SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvementElianne P Bulthuis, Merel J W Adjobo-Hermans, Bastiaan de Potter, et al.
The Journal of Clinical Investigation|May 26, 2022
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesisJonathan Shintaku, Wolfgang M Pernice, Wafaa Eyaid, et al.
American Journal of Human Genetics|September 2, 2014
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiencyLaura Melchionda, Tobias B Haack, Steven Hardy, et al.
American Journal of Human Genetics|February 3, 2016
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal GlycosylationJos C Jansen, Sharita Timal, Monique van Scherpenzeel, et al.
American Journal of Human Genetics|December 3, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
American Journal of Human Genetics|October 4, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
American Journal of Human Genetics|August 1, 2017
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal EncephalopathyFlorence Habarou, Yamina Hamel, Tobias B Haack, et al.
American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex DeficienciesThatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, et al.
Pageof 14