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1 . Academic Journal
Genetic and Imaging Characteristics of a Family With Neuronal Intranuclear Inclusion Disease
저자
by
정나연
;
이현정
;
Takeshi Mizuguchi
;
Naomichi Matsumoto
.
소스
Journal of Clinical Neurology, 18(3), pp.358-360 May, 2022
Open Access (KCI)
Web of Science
Scopus
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6 . Academic Journal
A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant
저자
by
Yuri Shibata
;
Akimichi Shibata
;
Takeshi Mizuguchi
;
Naomichi Matsumoto
;
Hitoshi Osaka
.
소스
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Case report: Neuronal intranuclear inclusion disease initially mimicking reversible cerebral vasoconstriction syndrome: serial neuroimaging findings during an 11-year follow-up
저자
by
Gha-Hyun Lee
;
Eugene Jung
;
Na-Yeon Jung
;
Takeshi Mizuguchi
;
Naomichi Matsumoto
, et al.
소스
Frontiers in Neurology, Vol 15 (2024)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association
저자
by
Rie Seyama
;
Masashi Nishikawa
;
Yuri Uchiyama
;
Keisuke Hamada
;
Yuka Yamamoto
, et al.
소스
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Open Access (DOAJ)
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7 . Academic Journal
Synchronous heart rate reduction with suppression‐burst pattern in KCNT1‐related developmental and epileptic encephalopathies
저자
by
Kaoru Yamamoto
;
Shimpei Baba
;
Takashi Saito
;
Eiji Nakagawa
;
Kenji Sugai
, et al.
소스
Epilepsia Open, Vol 8, Iss 2, Pp 651-658 (2023)
Open Access (Wiley)
Open Access (DOAJ)
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7 . Academic Journal
An integrated genetic analysis of epileptogenic brain malformed lesions
저자
by
Atsushi Fujita
;
Mitsuhiro Kato
;
Hidenori Sugano
;
Yasushi Iimura
;
Hiroharu Suzuki
, et al.
소스
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)
Open Access (BioMed Central)
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7 . Academic Journal
A novel NONO variant that causes developmental delay and cardiac phenotypes
저자
by
Toshiyuki Itai
;
Atsushi Sugie
;
Yohei Nitta
;
Ryuto Maki
;
Takashi Suzuki
, et al.
소스
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
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7 . Academic Journal
Distal 2q duplication in a patient with intellectual disability
저자
by
Toshifumi Suzuki
;
Hitoshi Osaka
;
Noriko Miyake
;
Atsushi Fujita
;
Yuri Uchiyama
, et al.
소스
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
저자
by
Satoko Miyatake
;
Eriko Koshimizu
;
Atsushi Fujita
;
Hiroshi Doi
;
Masaki Okubo
, et al.
소스
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-15 (2022)
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7 . Academic Journal
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
저자
by
Kohei Hamanaka
;
Noriko Miyake
;
Takeshi Mizuguchi
;
Satoko Miyatake
;
Yuri Uchiyama
, et al.
소스
Genome Medicine, Vol 14, Iss 1, Pp 1-20 (2022)
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