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Human Genome Variation
|
November 10, 2022
Distal 2q duplication in a patient with intellectual disability
Toshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, et al.
Journal of Human Genetics
|
November 22, 2025
Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures
Ayumi Matsumoto, Go Kasuya, Suvd Tumurbaatar, et al.
Brain & Development
|
June 8, 2017
Miglustat therapy in a case of early-infantile Niemann-Pick type C
Miho Usui, Akihiko Miyauchi, Yuko Nakano, et al.
Molecular and Cellular Biology
|
September 1, 2006
Solo/Trio8, a membrane-associated short isoform of Trio, modulates endosome dynamics and neurite elongation
Ying-Jie Sun, Kaori Nishikawa, Hideki Yuda, et al.
Brain & Development
|
December 6, 2016
A case of severe movement disorder with GNAO1 mutation responsive to topiramate
Saori Sakamoto, Yukifumi Monden, Ryoko Fukai, et al.
Journal of the Neurological Sciences
|
October 2, 2010
A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract
Ikuko Sato, Akira Onuma, Nobue Goto, et al.
Brain & Development
|
March 7, 2018
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation
Akihiko Miyauchi, Hitoshi Osaka, Masako Nagashima, et al.
Molecular Reproduction and Development
|
September 24, 2005
Overexpression of ubiquitin carboxyl-terminal hydrolase L1 arrests spermatogenesis in transgenic mice
Yu-Lai Wang, Wanzhao Liu, Ying-Jie Sun, et al.
Gene Therapy
|
October 20, 2020
Intra-cisterna magna delivery of an AAV vector with the GLUT1 promoter in a pig recapitulates the physiological expression of SLC2A1
Sachie Nakamura, Hitoshi Osaka, Shin-Ichi Muramatsu, et al.
Brain & Development
|
April 18, 2018
Rituximab was effective for acute disseminated encephalomyelitis followed by recurrent optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies
Masako Nagashima, Hitoshi Osaka, Takahiro Ikeda, et al.
Page
of 22
Search research articles
Search
Showing results (111-120 of 218) with videos related to
Sort By:
Page
of 22
Human Genome Variation
|
November 10, 2022
Distal 2q duplication in a patient with intellectual disability
Toshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, et al.
Journal of Human Genetics
|
November 22, 2025
Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures
Ayumi Matsumoto, Go Kasuya, Suvd Tumurbaatar, et al.
Brain & Development
|
June 8, 2017
Miglustat therapy in a case of early-infantile Niemann-Pick type C
Miho Usui, Akihiko Miyauchi, Yuko Nakano, et al.
Molecular and Cellular Biology
|
September 1, 2006
Solo/Trio8, a membrane-associated short isoform of Trio, modulates endosome dynamics and neurite elongation
Ying-Jie Sun, Kaori Nishikawa, Hideki Yuda, et al.
Brain & Development
|
December 6, 2016
A case of severe movement disorder with GNAO1 mutation responsive to topiramate
Saori Sakamoto, Yukifumi Monden, Ryoko Fukai, et al.
Journal of the Neurological Sciences
|
October 2, 2010
A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract
Ikuko Sato, Akira Onuma, Nobue Goto, et al.
Brain & Development
|
March 7, 2018
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation
Akihiko Miyauchi, Hitoshi Osaka, Masako Nagashima, et al.
Molecular Reproduction and Development
|
September 24, 2005
Overexpression of ubiquitin carboxyl-terminal hydrolase L1 arrests spermatogenesis in transgenic mice
Yu-Lai Wang, Wanzhao Liu, Ying-Jie Sun, et al.
Gene Therapy
|
October 20, 2020
Intra-cisterna magna delivery of an AAV vector with the GLUT1 promoter in a pig recapitulates the physiological expression of SLC2A1
Sachie Nakamura, Hitoshi Osaka, Shin-Ichi Muramatsu, et al.
Brain & Development
|
April 18, 2018
Rituximab was effective for acute disseminated encephalomyelitis followed by recurrent optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies
Masako Nagashima, Hitoshi Osaka, Takahiro Ikeda, et al.
Page
of 22