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Human Genome Variation
|
July 13, 2021
Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant
Tetsuya Okazaki, Hiroyuki Yamada, Kaori Matsuura, et al.
Brain & Development
|
August 5, 2017
Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis
Hirofumi Kurata, Kentaro Shirai, Yoshiaki Saito, et al.
BMC Pediatrics
|
May 6, 2024
An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty
Yuto Arai, Tohru Okanishi, Tetsuya Okazaki, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
July 20, 2017
Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1
Tetsuya Okazaki, Yoshiaki Saito, Rika Hiraiwa, et al.
Brain & Development
|
August 1, 2021
Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion
Hiroyuki Yamada, Tohru Okanishi, Tetsuya Okazaki, et al.
Yonago Acta Medica
|
August 6, 2016
Clinical Diagnosis of Mendelian Disorders Using a Comprehensive Gene-Targeted Panel Test for Next-Generation Sequencing
Tetsuya Okazaki, Megumi Murata, Masachika Kai, et al.
Human Genome Variation
|
May 1, 2020
Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel <i>FKRP</i> gene variants
Tetsuya Okazaki, Kaori Matsuura, Noriko Kasagi, et al.
Brain & Development
|
March 21, 2017
Surface electromyogram and muscle ultrasonography for detection of muscle fasciculations in pediatric peripheral neuropathy
Masayoshi Oguri, Yoshiaki Saito, Tetsuya Okazaki, et al.
Human Genome Variation
|
November 26, 2024
Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study
Mashu Futagawa, Tetsuya Okazaki, Eiji Nakata, et al.
Brain & Development
|
July 30, 2022
A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing
Yuto Arai, Tohru Okanishi, Sotaro Kanai, et al.
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of 6
Search research articles
Search
Showing results (21-30 of 55) with videos related to
Sort By:
Page
of 6
Human Genome Variation
|
July 13, 2021
Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant
Tetsuya Okazaki, Hiroyuki Yamada, Kaori Matsuura, et al.
Brain & Development
|
August 5, 2017
Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis
Hirofumi Kurata, Kentaro Shirai, Yoshiaki Saito, et al.
BMC Pediatrics
|
May 6, 2024
An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty
Yuto Arai, Tohru Okanishi, Tetsuya Okazaki, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape
|
July 20, 2017
Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1
Tetsuya Okazaki, Yoshiaki Saito, Rika Hiraiwa, et al.
Brain & Development
|
August 1, 2021
Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion
Hiroyuki Yamada, Tohru Okanishi, Tetsuya Okazaki, et al.
Yonago Acta Medica
|
August 6, 2016
Clinical Diagnosis of Mendelian Disorders Using a Comprehensive Gene-Targeted Panel Test for Next-Generation Sequencing
Tetsuya Okazaki, Megumi Murata, Masachika Kai, et al.
Human Genome Variation
|
May 1, 2020
Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel <i>FKRP</i> gene variants
Tetsuya Okazaki, Kaori Matsuura, Noriko Kasagi, et al.
Brain & Development
|
March 21, 2017
Surface electromyogram and muscle ultrasonography for detection of muscle fasciculations in pediatric peripheral neuropathy
Masayoshi Oguri, Yoshiaki Saito, Tetsuya Okazaki, et al.
Human Genome Variation
|
November 26, 2024
Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study
Mashu Futagawa, Tetsuya Okazaki, Eiji Nakata, et al.
Brain & Development
|
July 30, 2022
A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing
Yuto Arai, Tohru Okanishi, Sotaro Kanai, et al.
Page
of 6