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Lisa G Riley

Showing results (11-20 of 44) with videos related to

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Orphanet Journal of Rare Diseases|December 19, 2013
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemiaLisa G Riley, Minal J Menezes, Joëlle Rudinger-Thirion, et al.
Clinical Genetics|February 28, 2024
A founder variant expands the phenotype of WNT7B-related PDAC syndromeLama AlAbdi, Zuhair Rahbeeni, Sateesh Maddirevula, et al.
European Journal of Human Genetics : EJHG|October 21, 2016
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem diseaseAhmad Alodaib, Nara Sobreira, Wendy A Gold, et al.
American Journal of Medical Genetics. Part A|June 3, 2017
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunctionWendy A Gold, Nara Sobreira, Elsa Wiame, et al.
Neurology|August 28, 2025
<i>WWOX</i>-Related Developmental and Epileptic Encephalopathy: Expanding the Clinical Spectrum and Deciphering the Genotype-PhenotypeKelley Gao, Lisa G Riley, Jacques Raubenheimer, et al.
JIMD Reports|November 22, 2017
EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial DisordersShanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, et al.
American Journal of Human Genetics|July 6, 2010
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndromeLisa G Riley, Sandra Cooper, Peter Hickey, et al.
Journal of Personalized Medicine|March 25, 2022
Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic <i>RPGR</i> Variant Assessment for Therapy SuitabilityFidelle Chahine Karam, To Ha Loi, Alan Ma, et al.
European Journal of Human Genetics : EJHG|November 5, 2023
Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidismPatrick Yap, Lisa G Riley, Purvi M Kakadia, et al.
JIMD Reports|June 27, 2016
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial DisorderMichael Nafisinia, Yiran Guo, Xiao Dang, et al.
Pageof 5

Showing results (11-20 of 44) with videos related to

Sort By:
Pageof 5
Orphanet Journal of Rare Diseases|December 19, 2013
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemiaLisa G Riley, Minal J Menezes, Joëlle Rudinger-Thirion, et al.
Clinical Genetics|February 28, 2024
A founder variant expands the phenotype of WNT7B-related PDAC syndromeLama AlAbdi, Zuhair Rahbeeni, Sateesh Maddirevula, et al.
European Journal of Human Genetics : EJHG|October 21, 2016
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem diseaseAhmad Alodaib, Nara Sobreira, Wendy A Gold, et al.
American Journal of Medical Genetics. Part A|June 3, 2017
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunctionWendy A Gold, Nara Sobreira, Elsa Wiame, et al.
Neurology|August 28, 2025
<i>WWOX</i>-Related Developmental and Epileptic Encephalopathy: Expanding the Clinical Spectrum and Deciphering the Genotype-PhenotypeKelley Gao, Lisa G Riley, Jacques Raubenheimer, et al.
JIMD Reports|November 22, 2017
EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial DisordersShanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, et al.
American Journal of Human Genetics|July 6, 2010
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndromeLisa G Riley, Sandra Cooper, Peter Hickey, et al.
Journal of Personalized Medicine|March 25, 2022
Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic <i>RPGR</i> Variant Assessment for Therapy SuitabilityFidelle Chahine Karam, To Ha Loi, Alan Ma, et al.
European Journal of Human Genetics : EJHG|November 5, 2023
Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidismPatrick Yap, Lisa G Riley, Purvi M Kakadia, et al.
JIMD Reports|June 27, 2016
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial DisorderMichael Nafisinia, Yiran Guo, Xiao Dang, et al.
Pageof 5