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Hiroko Shimbo

Showing results (1-10 of 37) with videos related to

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Amino Acids|November 15, 2011
A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromesTakahito Wada, Hiroko Shimbo, Hitoshi Osaka
Congenital Anomalies|February 22, 2017
Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9Hiroko Shimbo, Tatsuki Oyoshi, Kenji Kurosawa
Journal of Human Genetics|June 6, 2014
A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRXHiroko Shimbo, Shinsuke Ninomiya, Kenji Kurosawa, et al.
Brain & Development|August 16, 2014
Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsyMoe Tamaura, Hiroko Shimbo, Mizue Iai, et al.
Pediatric Neurology|November 9, 2013
A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxiaAkiko Ohshiro-Sasaki, Hiroko Shimbo, Kyoko Takano, et al.
Human Genome Variation|April 6, 2018
Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotoniaAyako Ueda, Hiroko Shimbo, Yukari Yada, et al.
Pediatric Neurology|October 8, 2013
Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2Mayumi Matsufuji, Hitoshi Osaka, Leo Gotoh, et al.
Behavioural Brain Research|October 14, 2024
Impact of feeding age on cognitive impairment in mice with Disrupted-In-Schizophrenia 1 (Disc1) mutation under a high sucrose dietJonghyuk Park, Hiroko Shimbo, Shoko Tamura, et al.
Scientific Reports|July 2, 2025
Development of a novel liquid chromatography-tandem mass spectrometry based enzymatic assay of 5,10-methylenetetrahydrofolate reductaseKohei Sunoki, Miyuki Watanabe, Shiho Aoki, et al.
Human Genome Variation|September 14, 2018
Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndromeTakahiro Ikeda, Hitoshi Osaka, Hiroko Shimbo, et al.
Pageof 4

Showing results (1-10 of 37) with videos related to

Sort By:
Pageof 4
Amino Acids|November 15, 2011
A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromesTakahito Wada, Hiroko Shimbo, Hitoshi Osaka
Congenital Anomalies|February 22, 2017
Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9Hiroko Shimbo, Tatsuki Oyoshi, Kenji Kurosawa
Journal of Human Genetics|June 6, 2014
A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRXHiroko Shimbo, Shinsuke Ninomiya, Kenji Kurosawa, et al.
Brain & Development|August 16, 2014
Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsyMoe Tamaura, Hiroko Shimbo, Mizue Iai, et al.
Pediatric Neurology|November 9, 2013
A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxiaAkiko Ohshiro-Sasaki, Hiroko Shimbo, Kyoko Takano, et al.
Human Genome Variation|April 6, 2018
Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotoniaAyako Ueda, Hiroko Shimbo, Yukari Yada, et al.
Pediatric Neurology|October 8, 2013
Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2Mayumi Matsufuji, Hitoshi Osaka, Leo Gotoh, et al.
Behavioural Brain Research|October 14, 2024
Impact of feeding age on cognitive impairment in mice with Disrupted-In-Schizophrenia 1 (Disc1) mutation under a high sucrose dietJonghyuk Park, Hiroko Shimbo, Shoko Tamura, et al.
Scientific Reports|July 2, 2025
Development of a novel liquid chromatography-tandem mass spectrometry based enzymatic assay of 5,10-methylenetetrahydrofolate reductaseKohei Sunoki, Miyuki Watanabe, Shiho Aoki, et al.
Human Genome Variation|September 14, 2018
Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndromeTakahiro Ikeda, Hitoshi Osaka, Hiroko Shimbo, et al.
Pageof 4