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Thyroid : Official Journal of the American Thyroid Association
|
May 29, 2021
Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency
Hideyuki Iwayama, Hiroki Kakita, Masumi Iwasa, et al.
Brain & Development
|
February 12, 2019
MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNA<sup>Met</sup> gene
Mari Kuwajima, Masahide Goto, Koyuru Kurane, et al.
Brain & Development
|
December 3, 2014
A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy
Kyoko Takano, Yu Tsuyusaki, Mutsumi Sato, et al.
Journal of Neurochemistry
|
February 18, 2005
Potentiation of ATP-induced currents due to the activation of P2X receptors by ubiquitin carboxy-terminal hydrolase L1
Yoshimasa Manago, Yoshiko Kanahori, Aki Shimada, et al.
Brain & Development
|
September 19, 2013
Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8
Hidekazu Kato, Fuyu Miyake, Hiroko Shimbo, et al.
Journal of Human Genetics
|
April 1, 2016
WDR45 mutations in three male patients with West syndrome
Mitsuko Nakashima, Kyoko Takano, Yu Tsuyusaki, et al.
American Journal of Medical Genetics. Part A
|
December 15, 2012
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia
Shihoko Kimura-Ohba, Kuriko Kagitani-Shimono, Natsuko Hashimoto, et al.
Journal of Cellular Physiology
|
July 11, 2006
Parkin potentiates ATP-induced currents due to activation of P2X receptors in PC12 cells
Ayumi Sato, Yukiko Arimura, Yoshimasa Manago, et al.
Brain Research
|
August 13, 2004
Accumulation of beta- and gamma-synucleins in the ubiquitin carboxyl-terminal hydrolase L1-deficient gad mouse
Yu-Lai Wang, Ayako Takeda, Hitoshi Osaka, et al.
Brain Communications
|
August 23, 2021
Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic l-amino acid decarboxylase deficiency
Yoshiyuki Onuki, Sayaka Ono, Takeshi Nakajima, et al.
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of 22
Search research articles
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Showing results (151-160 of 218) with videos related to
Sort By:
Page
of 22
Thyroid : Official Journal of the American Thyroid Association
|
May 29, 2021
Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency
Hideyuki Iwayama, Hiroki Kakita, Masumi Iwasa, et al.
Brain & Development
|
February 12, 2019
MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNA<sup>Met</sup> gene
Mari Kuwajima, Masahide Goto, Koyuru Kurane, et al.
Brain & Development
|
December 3, 2014
A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy
Kyoko Takano, Yu Tsuyusaki, Mutsumi Sato, et al.
Journal of Neurochemistry
|
February 18, 2005
Potentiation of ATP-induced currents due to the activation of P2X receptors by ubiquitin carboxy-terminal hydrolase L1
Yoshimasa Manago, Yoshiko Kanahori, Aki Shimada, et al.
Brain & Development
|
September 19, 2013
Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8
Hidekazu Kato, Fuyu Miyake, Hiroko Shimbo, et al.
Journal of Human Genetics
|
April 1, 2016
WDR45 mutations in three male patients with West syndrome
Mitsuko Nakashima, Kyoko Takano, Yu Tsuyusaki, et al.
American Journal of Medical Genetics. Part A
|
December 15, 2012
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia
Shihoko Kimura-Ohba, Kuriko Kagitani-Shimono, Natsuko Hashimoto, et al.
Journal of Cellular Physiology
|
July 11, 2006
Parkin potentiates ATP-induced currents due to activation of P2X receptors in PC12 cells
Ayumi Sato, Yukiko Arimura, Yoshimasa Manago, et al.
Brain Research
|
August 13, 2004
Accumulation of beta- and gamma-synucleins in the ubiquitin carboxyl-terminal hydrolase L1-deficient gad mouse
Yu-Lai Wang, Ayako Takeda, Hitoshi Osaka, et al.
Brain Communications
|
August 23, 2021
Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic l-amino acid decarboxylase deficiency
Yoshiyuki Onuki, Sayaka Ono, Takeshi Nakajima, et al.
Page
of 22