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Akira Ohtake

Showing results (31-40 of 162) with videos related to

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Journal of Atherosclerosis and Thrombosis|February 9, 2018
Guidance for Pediatric Familial Hypercholesterolemia 2017Mariko Harada-Shiba, Takao Ohta, Akira Ohtake, et al.
Molecular Genetics and Metabolism|April 24, 2025
Role of BOLA3 in the mitochondrial Fe-S cluster clarified by metabolomic analysisHiroyuki Iijima, Atsuko Imai-Okazaki, Yoshihito Kishita, et al.
Biochimica Et Biophysica Acta|December 4, 2004
Biochemical and molecular diagnosis of mitochondrial respiratory chain disordersDavid R Thorburn, Canny Sugiana, Renato Salemi, et al.
Annals of Neurology|October 2, 2003
Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's diseaseDenise M Kirby, Avihu Boneh, C W Chow, et al.
Brain & Development|September 11, 2019
Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrumRei Takada, Takenori Tozawa, Hidehito Kondo, et al.
Molecular Genetics & Genomic Medicine|October 5, 2020
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screeningTakaaki Sawada, Jun Kido, Keishin Sugawara, et al.
European Journal of Medical Genetics|May 29, 2021
A case of ATR-X syndrome with mitochondrial respiratory chain dysfunctionKaori Aiba, Yuji Nakamura, Mari Sugimoto, et al.
Journal of Human Genetics|July 1, 2016
HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive familiesAtsuko Imai, Masakazu Kohda, Akihiro Nakaya, et al.
Molecular Genetics and Metabolism Reports|September 30, 2021
Successful recovery from severe hypertension in a patient with Leigh syndromeYuto Arai, Kiyotaka Kosugiyama, Takuya Tamura, et al.
European Journal of Endocrinology|November 4, 2011
Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type IITakashi Akamizu, Nobuo Sakura, Yosuke Shigematsu, et al.
Pageof 17

Showing results (31-40 of 162) with videos related to

Sort By:
Pageof 17
Journal of Atherosclerosis and Thrombosis|February 9, 2018
Guidance for Pediatric Familial Hypercholesterolemia 2017Mariko Harada-Shiba, Takao Ohta, Akira Ohtake, et al.
Molecular Genetics and Metabolism|April 24, 2025
Role of BOLA3 in the mitochondrial Fe-S cluster clarified by metabolomic analysisHiroyuki Iijima, Atsuko Imai-Okazaki, Yoshihito Kishita, et al.
Biochimica Et Biophysica Acta|December 4, 2004
Biochemical and molecular diagnosis of mitochondrial respiratory chain disordersDavid R Thorburn, Canny Sugiana, Renato Salemi, et al.
Annals of Neurology|October 2, 2003
Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's diseaseDenise M Kirby, Avihu Boneh, C W Chow, et al.
Brain & Development|September 11, 2019
Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrumRei Takada, Takenori Tozawa, Hidehito Kondo, et al.
Molecular Genetics & Genomic Medicine|October 5, 2020
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screeningTakaaki Sawada, Jun Kido, Keishin Sugawara, et al.
European Journal of Medical Genetics|May 29, 2021
A case of ATR-X syndrome with mitochondrial respiratory chain dysfunctionKaori Aiba, Yuji Nakamura, Mari Sugimoto, et al.
Journal of Human Genetics|July 1, 2016
HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive familiesAtsuko Imai, Masakazu Kohda, Akihiro Nakaya, et al.
Molecular Genetics and Metabolism Reports|September 30, 2021
Successful recovery from severe hypertension in a patient with Leigh syndromeYuto Arai, Kiyotaka Kosugiyama, Takuya Tamura, et al.
European Journal of Endocrinology|November 4, 2011
Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type IITakashi Akamizu, Nobuo Sakura, Yosuke Shigematsu, et al.
Pageof 17