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Epileptic Disorders : International Epilepsy Journal with Videotape
|
April 18, 2020
Praxis-induced reflex seizures in two Japanese cases with ring chromosome 20 syndrome
Hirokazu Yamagishi, Masahide Goto, Hitoshi Osaka, et al.
Magnetic Resonance in Medical Sciences : MRMS : an Official Journal of Japan Society of Magnetic Resonance in Medicine
|
December 16, 2014
Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and Schizencephaly
Tetsu Niwa, Noriko Aida, Hitoshi Osaka, et al.
Human Genome Variation
|
February 17, 2021
MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene
Kei Wakabayashi, Hitoshi Osaka, Karin Kojima, et al.
International Journal of Molecular Sciences
|
February 24, 2024
A Simple, Fast, Sensitive LC-MS/MS Method to Quantify NAD(H) in Biological Samples: Plasma NAD(H) Measurement to Monitor Brain Pathophysiology
Tamaki Ishima, Natsuka Kimura, Mizuki Kobayashi, et al.
Journal of Human Genetics
|
June 3, 2020
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy
Takuya Hiraide, Mitsuko Nakashima, Takahiro Ikeda, et al.
No to Hattatsu = Brain and Development
|
March 26, 2015
[A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case]
Fumihito Nozaki, Tomohiro Kumada, Minoru Shibata, et al.
Human Genome Variation
|
August 18, 2021
Intellectual disability and microcephaly associated with a novel CHAMP1 mutation
Yuta Asakura, Hitoshi Osaka, Hiromi Aoi, 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 hypotonia
Ayako Ueda, Hiroko Shimbo, Yukari Yada, et al.
Brain & Development
|
June 13, 2018
Long-term outcomes in motor and cognitive impairment with acute encephalopathy
Yuri Matsubara, Hitoshi Osaka, Takanori Yamagata, et al.
Acta Radiologica (Stockholm, Sweden : 1987)
|
December 21, 2011
Acute hemicerebellitis in a pediatric patient: a case report of a serial MR spectroscopy study
Moyoko Tomiyasu, Noriko Aida, Tadahiro Mitani, et al.
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Search research articles
Search
Showing results (21-30 of 218) with videos related to
Sort By:
Page
of 22
Epileptic Disorders : International Epilepsy Journal with Videotape
|
April 18, 2020
Praxis-induced reflex seizures in two Japanese cases with ring chromosome 20 syndrome
Hirokazu Yamagishi, Masahide Goto, Hitoshi Osaka, et al.
Magnetic Resonance in Medical Sciences : MRMS : an Official Journal of Japan Society of Magnetic Resonance in Medicine
|
December 16, 2014
Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a Type IV Collagen α1 Mutation and Schizencephaly
Tetsu Niwa, Noriko Aida, Hitoshi Osaka, et al.
Human Genome Variation
|
February 17, 2021
MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene
Kei Wakabayashi, Hitoshi Osaka, Karin Kojima, et al.
International Journal of Molecular Sciences
|
February 24, 2024
A Simple, Fast, Sensitive LC-MS/MS Method to Quantify NAD(H) in Biological Samples: Plasma NAD(H) Measurement to Monitor Brain Pathophysiology
Tamaki Ishima, Natsuka Kimura, Mizuki Kobayashi, et al.
Journal of Human Genetics
|
June 3, 2020
Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy
Takuya Hiraide, Mitsuko Nakashima, Takahiro Ikeda, et al.
No to Hattatsu = Brain and Development
|
March 26, 2015
[A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case]
Fumihito Nozaki, Tomohiro Kumada, Minoru Shibata, et al.
Human Genome Variation
|
August 18, 2021
Intellectual disability and microcephaly associated with a novel CHAMP1 mutation
Yuta Asakura, Hitoshi Osaka, Hiromi Aoi, 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 hypotonia
Ayako Ueda, Hiroko Shimbo, Yukari Yada, et al.
Brain & Development
|
June 13, 2018
Long-term outcomes in motor and cognitive impairment with acute encephalopathy
Yuri Matsubara, Hitoshi Osaka, Takanori Yamagata, et al.
Acta Radiologica (Stockholm, Sweden : 1987)
|
December 21, 2011
Acute hemicerebellitis in a pediatric patient: a case report of a serial MR spectroscopy study
Moyoko Tomiyasu, Noriko Aida, Tadahiro Mitani, et al.
Page
of 22