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Eric S Schmitt

Showing results (1-10 of 34) with videos related to

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Clinical Chemistry|May 8, 2010
Quantitative evaluation of the mitochondrial DNA depletion syndromeDavid Dimmock, Lin-Ya Tang, Eric S Schmitt, et al.
Molecular Genetics and Metabolism|April 13, 2011
Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disordersMegan L Landsverk, Jing Wang, Eric S Schmitt, et al.
Molecular Genetics and Metabolism|April 13, 2012
Targeted array CGH as a valuable molecular diagnostic approach: experience in the diagnosis of mitochondrial and metabolic disordersJing Wang, Hongli Zhan, Fang-Yuan Li, et al.
Birth Defects Research|January 24, 2018
Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramniosLinbei Deng, Sau Wai Cheung, Eric S Schmitt, et al.
Molecular Genetics and Metabolism|May 14, 2010
Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiencyCurtis R Coughlin, Ian D Krantz, Eric S Schmitt, et al.
Mitochondrion|November 11, 2009
A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skippingJack Q Ji, David Dimmock, Lin-Ya Tang, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|September 25, 2012
Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR geneSha Tang, Siby P Moonnumakal, Blair Stevens, et al.
Human Mutation|June 25, 2010
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiencyFang-Yuan Li, Ayman W El-Hattab, Erawati V Bawle, et al.
Molecular Genetics and Metabolism|October 10, 2009
Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletionShulin Zhang, Fang-Yuan Li, Harold N Bass, et al.
Journal of Medical Genetics|September 2, 2011
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrumSha Tang, Jing Wang, Ni-Chung Lee, et al.
Pageof 4

Showing results (1-10 of 34) with videos related to

Sort By:
Pageof 4
Clinical Chemistry|May 8, 2010
Quantitative evaluation of the mitochondrial DNA depletion syndromeDavid Dimmock, Lin-Ya Tang, Eric S Schmitt, et al.
Molecular Genetics and Metabolism|April 13, 2011
Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disordersMegan L Landsverk, Jing Wang, Eric S Schmitt, et al.
Molecular Genetics and Metabolism|April 13, 2012
Targeted array CGH as a valuable molecular diagnostic approach: experience in the diagnosis of mitochondrial and metabolic disordersJing Wang, Hongli Zhan, Fang-Yuan Li, et al.
Birth Defects Research|January 24, 2018
Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramniosLinbei Deng, Sau Wai Cheung, Eric S Schmitt, et al.
Molecular Genetics and Metabolism|May 14, 2010
Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiencyCurtis R Coughlin, Ian D Krantz, Eric S Schmitt, et al.
Mitochondrion|November 11, 2009
A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skippingJack Q Ji, David Dimmock, Lin-Ya Tang, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|September 25, 2012
Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR geneSha Tang, Siby P Moonnumakal, Blair Stevens, et al.
Human Mutation|June 25, 2010
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiencyFang-Yuan Li, Ayman W El-Hattab, Erawati V Bawle, et al.
Molecular Genetics and Metabolism|October 10, 2009
Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletionShulin Zhang, Fang-Yuan Li, Harold N Bass, et al.
Journal of Medical Genetics|September 2, 2011
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrumSha Tang, Jing Wang, Ni-Chung Lee, et al.
Pageof 4