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Lisa G Riley

Showing results (31-40 of 44) with videos related to

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Neuromuscular Disorders : NMD|January 6, 2015
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectYiran Guo, Minal J Menezes, Manoj P Menezes, 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.
Human Molecular Genetics|January 4, 2015
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemiaMinal J Menezes, Yiran Guo, Jianguo Zhang, et al.
Cold Spring Harbor Molecular Case Studies|April 3, 2021
A description of novel variants and review of phenotypic spectrum in <i>UBA5</i>-related early epileptic encephalopathyLauren C Briere, Melissa A Walker, Frances A High, et al.
Journal of Clinical Medicine|November 23, 2019
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> VariantsRocio Rius, Nicole J Van Bergen, Alison G Compton, et al.
Human Mutation|May 23, 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathyLisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, et al.
American Journal of Human Genetics|June 19, 2018
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol BiosynthesisDavid Coman, Lisenka E L M Vissers, Lisa G Riley, et al.
Neurology|February 10, 2019
Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophyMarjo S van der Knaap, Marianna Bugiani, Marisa I Mendes, et al.
Journal of Medical Genetics|July 5, 2022
Bi-allelic variants in <i>WNT7B</i> disrupt the development of multiple organs in humansSamir Bouasker, Nisha Patel, Rebecca Greenlees, et al.
Human Molecular Genetics|February 11, 2022
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial diseaseRichard G Lee, Shanti Balasubramaniam, Maike Stentenbach, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
Neuromuscular Disorders : NMD|January 6, 2015
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defectYiran Guo, Minal J Menezes, Manoj P Menezes, 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.
Human Molecular Genetics|January 4, 2015
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemiaMinal J Menezes, Yiran Guo, Jianguo Zhang, et al.
Cold Spring Harbor Molecular Case Studies|April 3, 2021
A description of novel variants and review of phenotypic spectrum in <i>UBA5</i>-related early epileptic encephalopathyLauren C Briere, Melissa A Walker, Frances A High, et al.
Journal of Clinical Medicine|November 23, 2019
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> VariantsRocio Rius, Nicole J Van Bergen, Alison G Compton, et al.
Human Mutation|May 23, 2020
The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathyLisa G Riley, Joëlle Rudinger-Thirion, Magali Frugier, et al.
American Journal of Human Genetics|June 19, 2018
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol BiosynthesisDavid Coman, Lisenka E L M Vissers, Lisa G Riley, et al.
Neurology|February 10, 2019
Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophyMarjo S van der Knaap, Marianna Bugiani, Marisa I Mendes, et al.
Journal of Medical Genetics|July 5, 2022
Bi-allelic variants in <i>WNT7B</i> disrupt the development of multiple organs in humansSamir Bouasker, Nisha Patel, Rebecca Greenlees, et al.
Human Molecular Genetics|February 11, 2022
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial diseaseRichard G Lee, Shanti Balasubramaniam, Maike Stentenbach, et al.
Pageof 5