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Journal of Human Genetics
|
March 14, 2014
De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain
Chihiro Ohba, Shin Nabatame, Yoshitaka Iijima, et al.
Journal of the Endocrine Society
|
May 7, 2020
Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of <i>FGFR1</i>
Sachiko Kobayashi, Junpei Tanigawa, Hidehito Kondo, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
June 24, 2018
Atypical auditory language processing in adolescents with autism spectrum disorder
Junpei Tanigawa, Kuriko Kagitani-Shimono, Junko Matsuzaki, et al.
Brain & Development
|
May 3, 2014
Prognostic factors for acute encephalopathy with bright tree appearance
Junji Azuma, Shin Nabatame, Sayaka Nakano, et al.
Journal of Human Genetics
|
July 21, 2017
An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination
Gaku Minase, Satoko Miyatake, Shin Nabatame, et al.
Seizure
|
February 4, 2012
8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome
Tojo Nakayama, Shin Nabatame, Yoshiaki Saito, et al.
Nature Communications
|
June 6, 2022
Establishment of mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapy
Ryoko Kuwayama, Keiichiro Suzuki, Jun Nakamura, et al.
Journal of Neurosurgery. Case Lessons
|
June 30, 2025
Intrathecal baclofen therapy can improve spasticity associated with infantile-onset dentatorubral-pallidoluysian atrophy: illustrative cases
Tomoyoshi Nakagawa, Naoki Tani, Kuriko Kagitani-Shimono, et al.
Asian Journal of Endoscopic Surgery
|
December 7, 2023
Potential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reports
Koichi Deguchi, Ryuta Saka, Marie Todo, et al.
Biomedicines
|
May 27, 2026
Comprehensive High-Depth Proteomic Analysis of Plasma Extracellular Vesicle-Containing Preparations in CDKL5 Deficiency Disorder
Tadashi Shiohama, Satoru Takahashi, Ryo Takeguchi, et al.
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of 6
Search research articles
Search
Showing results (21-30 of 53) with videos related to
Sort By:
Page
of 6
Journal of Human Genetics
|
March 14, 2014
De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain
Chihiro Ohba, Shin Nabatame, Yoshitaka Iijima, et al.
Journal of the Endocrine Society
|
May 7, 2020
Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of <i>FGFR1</i>
Sachiko Kobayashi, Junpei Tanigawa, Hidehito Kondo, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
June 24, 2018
Atypical auditory language processing in adolescents with autism spectrum disorder
Junpei Tanigawa, Kuriko Kagitani-Shimono, Junko Matsuzaki, et al.
Brain & Development
|
May 3, 2014
Prognostic factors for acute encephalopathy with bright tree appearance
Junji Azuma, Shin Nabatame, Sayaka Nakano, et al.
Journal of Human Genetics
|
July 21, 2017
An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination
Gaku Minase, Satoko Miyatake, Shin Nabatame, et al.
Seizure
|
February 4, 2012
8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome
Tojo Nakayama, Shin Nabatame, Yoshiaki Saito, et al.
Nature Communications
|
June 6, 2022
Establishment of mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapy
Ryoko Kuwayama, Keiichiro Suzuki, Jun Nakamura, et al.
Journal of Neurosurgery. Case Lessons
|
June 30, 2025
Intrathecal baclofen therapy can improve spasticity associated with infantile-onset dentatorubral-pallidoluysian atrophy: illustrative cases
Tomoyoshi Nakagawa, Naoki Tani, Kuriko Kagitani-Shimono, et al.
Asian Journal of Endoscopic Surgery
|
December 7, 2023
Potential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reports
Koichi Deguchi, Ryuta Saka, Marie Todo, et al.
Biomedicines
|
May 27, 2026
Comprehensive High-Depth Proteomic Analysis of Plasma Extracellular Vesicle-Containing Preparations in CDKL5 Deficiency Disorder
Tadashi Shiohama, Satoru Takahashi, Ryo Takeguchi, et al.
Page
of 6