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Elizabeth M McCormick

Showing results (31-40 of 45) with videos related to

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Molecular Genetics and Metabolism|December 31, 2021
Advanced approach for comprehensive mtDNA genome testing in mitochondrial diseaseJing Wang, Jorune Balciuniene, Maria Alejandra Diaz-Miranda, et al.
Human Mutation|September 9, 2020
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretationElizabeth M McCormick, Marie T Lott, Matthew C Dulik, et al.
Frontiers in Pharmacology|April 24, 2025
Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial diseaseJing Wang, James T Peterson, Joaquim Diego D Santos, et al.
Journal of Medical Genetics|November 22, 2014
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndromePaul Kruszka, Dong Li, Margaret H Harr, et al.
Human Molecular Genetics|June 20, 2018
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesisEmanuele Barca, Rebecca D Ganetzky, Prasanth Potluri, et al.
Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.
Journal of Inherited Metabolic Disease|June 10, 2016
International Paediatric Mitochondrial Disease ScaleSaskia Koene, Jan C M Hendriks, Ilse Dirks, et al.
Science Advances|April 15, 2026
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretationRobert Wang, Feng Wang, Nicole DeBruyne, et al.
American Journal of Human Genetics|September 13, 2016
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel BlockersDong Li, Hongjie Yuan, Xilma R Ortiz-Gonzalez, et al.
American Journal of Human Genetics|August 5, 2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh SyndromeNicole J Lake, Bryn D Webb, David A Stroud, et al.
Pageof 5

Showing results (31-40 of 45) with videos related to

Sort By:
Pageof 5
Molecular Genetics and Metabolism|December 31, 2021
Advanced approach for comprehensive mtDNA genome testing in mitochondrial diseaseJing Wang, Jorune Balciuniene, Maria Alejandra Diaz-Miranda, et al.
Human Mutation|September 9, 2020
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretationElizabeth M McCormick, Marie T Lott, Matthew C Dulik, et al.
Frontiers in Pharmacology|April 24, 2025
Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial diseaseJing Wang, James T Peterson, Joaquim Diego D Santos, et al.
Journal of Medical Genetics|November 22, 2014
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndromePaul Kruszka, Dong Li, Margaret H Harr, et al.
Human Molecular Genetics|June 20, 2018
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesisEmanuele Barca, Rebecca D Ganetzky, Prasanth Potluri, et al.
Journal of Medical Genetics|January 27, 2019
Diagnosis of 'possible' mitochondrial disease: an existential crisisSumit Parikh, Amel Karaa, Amy Goldstein, et al.
Journal of Inherited Metabolic Disease|June 10, 2016
International Paediatric Mitochondrial Disease ScaleSaskia Koene, Jan C M Hendriks, Ilse Dirks, et al.
Science Advances|April 15, 2026
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretationRobert Wang, Feng Wang, Nicole DeBruyne, et al.
American Journal of Human Genetics|September 13, 2016
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel BlockersDong Li, Hongjie Yuan, Xilma R Ortiz-Gonzalez, et al.
American Journal of Human Genetics|August 5, 2017
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh SyndromeNicole J Lake, Bryn D Webb, David A Stroud, et al.
Pageof 5