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DiMauro

Showing results (741-750 of 942) with videos related to

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Biochemical and Biophysical Research Communications|April 16, 1998
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotypeM L Huie, S Tsujino, S Sklower Brooks, et al.
American Journal of Human Genetics|August 12, 1999
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IVC Bruno, A Martinuzzi, Y Tang, et al.
Hepatology (Baltimore, Md.)|June 30, 2001
Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?T H Vu, K Tanji, S A Holve, et al.
Neurology|April 28, 2004
Cerebral lactic acidosis correlates with neurological impairment in MELASP Kaufmann, D C Shungu, M C Sano, et al.
Reproductive Sciences (Thousand Oaks, Calif.)|November 1, 2021
Prolactin is Expressed in Uterine Leiomyomas and Promotes Signaling and Fibrosis in Myometrial CellsAlessandra DiMauro, Christina Seger, Briaunna Minor, et al.
American Journal of Human Genetics|August 2, 2002
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndromeSara Shanske, Yingying Tang, Michio Hirano, et al.
Neuromuscular Disorders : NMD|May 28, 2008
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B geneBelén Bornstein, Estela Area, Kevin M Flanigan, et al.
Annals of Neurology|January 23, 1999
A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuriaA L Andreu, C Bruno, T C Dunne, et al.
Spine Deformity|May 9, 2018
Cadaveric Study of the Safety and Device Functionality of Magnetically Controlled Growing Rods After Exposure to Magnetic Resonance ImagingSelina Poon, Yen Hsun Chen, Stephen F Wendolowski, et al.
Journal of Translational Genetics and Genomics|July 1, 2020
The North American mitochondrial disease registryXiomara Q Rosales, John L P Thompson, Richard Haas, et al.
Pageof 95

Showing results (741-750 of 942) with videos related to

Sort By:
Pageof 95
Biochemical and Biophysical Research Communications|April 16, 1998
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotypeM L Huie, S Tsujino, S Sklower Brooks, et al.
American Journal of Human Genetics|August 12, 1999
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IVC Bruno, A Martinuzzi, Y Tang, et al.
Hepatology (Baltimore, Md.)|June 30, 2001
Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?T H Vu, K Tanji, S A Holve, et al.
Neurology|April 28, 2004
Cerebral lactic acidosis correlates with neurological impairment in MELASP Kaufmann, D C Shungu, M C Sano, et al.
Reproductive Sciences (Thousand Oaks, Calif.)|November 1, 2021
Prolactin is Expressed in Uterine Leiomyomas and Promotes Signaling and Fibrosis in Myometrial CellsAlessandra DiMauro, Christina Seger, Briaunna Minor, et al.
American Journal of Human Genetics|August 2, 2002
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndromeSara Shanske, Yingying Tang, Michio Hirano, et al.
Neuromuscular Disorders : NMD|May 28, 2008
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B geneBelén Bornstein, Estela Area, Kevin M Flanigan, et al.
Annals of Neurology|January 23, 1999
A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuriaA L Andreu, C Bruno, T C Dunne, et al.
Spine Deformity|May 9, 2018
Cadaveric Study of the Safety and Device Functionality of Magnetically Controlled Growing Rods After Exposure to Magnetic Resonance ImagingSelina Poon, Yen Hsun Chen, Stephen F Wendolowski, et al.
Journal of Translational Genetics and Genomics|July 1, 2020
The North American mitochondrial disease registryXiomara Q Rosales, John L P Thompson, Richard Haas, et al.
Pageof 95