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Akira Ohtake

Showing results (111-120 of 144) with videos related to

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Molecular Genetics and Metabolism Reports|September 5, 2022
Severe spinal cord hypoplasia due to a novel <i>ATAD3A</i> compound heterozygous deletionTomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|November 22, 2012
Oxysterol changes along with cholesterol and vitamin D changes in adult phenylketonuric patients diagnosed by newborn mass-screeningHironori Nagasaka, Yoshiyuki Okano, Akihiko Kimura, et al.
NPJ Genomic Medicine|October 25, 2024
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathyKokoro Ozaki, Yukiko Yatsuka, Yoshinobu Oyazato, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|October 9, 2021
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosisTomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, et al.
Brain & Development|December 30, 2025
Ferroptosis susceptibility in primary coenzyme Q<sub>10</sub> deficiency: Cellular insights from patient fibroblasts and clinical course of six individualsChika Watanabe, Akihiko Miyauchi, Shiho Aoki, et al.
Molecular Genetics and Metabolism|June 13, 2009
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex IIShunsaku Kaji, Kei Murayama, Ikuo Nagata, et al.
Biochemical and Biophysical Research Communications|October 28, 2008
A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptorToru Fukuda, Kazuhiro Kanomata, Junya Nojima, et al.
Annals of Clinical and Translational Neurology|October 31, 2014
New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disordersNatsumi Uehara, Masato Mori, Yoshimi Tokuzawa, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|September 7, 2016
High-dose Cepharanthin for pediatric chronic immune thrombocytopenia in JapanTaro Yamazaki, Atsushi Shibuya, Saori Ishii, et al.
Molecular Genetics and Metabolism Reports|October 20, 2021
Valine metabolites analysis in ECHS1 deficiencyMari Kuwajima, Karin Kojima, Hitoshi Osaka, et al.
Pageof 15

Showing results (111-120 of 144) with videos related to

Sort By:
Pageof 15
Molecular Genetics and Metabolism Reports|September 5, 2022
Severe spinal cord hypoplasia due to a novel <i>ATAD3A</i> compound heterozygous deletionTomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|November 22, 2012
Oxysterol changes along with cholesterol and vitamin D changes in adult phenylketonuric patients diagnosed by newborn mass-screeningHironori Nagasaka, Yoshiyuki Okano, Akihiko Kimura, et al.
NPJ Genomic Medicine|October 25, 2024
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathyKokoro Ozaki, Yukiko Yatsuka, Yoshinobu Oyazato, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|October 9, 2021
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosisTomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, et al.
Brain & Development|December 30, 2025
Ferroptosis susceptibility in primary coenzyme Q<sub>10</sub> deficiency: Cellular insights from patient fibroblasts and clinical course of six individualsChika Watanabe, Akihiko Miyauchi, Shiho Aoki, et al.
Molecular Genetics and Metabolism|June 13, 2009
Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex IIShunsaku Kaji, Kei Murayama, Ikuo Nagata, et al.
Biochemical and Biophysical Research Communications|October 28, 2008
A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptorToru Fukuda, Kazuhiro Kanomata, Junya Nojima, et al.
Annals of Clinical and Translational Neurology|October 31, 2014
New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disordersNatsumi Uehara, Masato Mori, Yoshimi Tokuzawa, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|September 7, 2016
High-dose Cepharanthin for pediatric chronic immune thrombocytopenia in JapanTaro Yamazaki, Atsushi Shibuya, Saori Ishii, et al.
Molecular Genetics and Metabolism Reports|October 20, 2021
Valine metabolites analysis in ECHS1 deficiencyMari Kuwajima, Karin Kojima, Hitoshi Osaka, et al.
Pageof 15