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1 . Academic Journal
Phenotypic characteristics of pediatric inflammatory bowel disease in Japan: results from a multicenter registry
저자
by
Katsuhiro Arai
;
Reiko Kunisaki
;
Fumihiko Kakuta
;
Shin-ichiro Hagiwara
;
Takatsugu Murakoshi
, et al.
소스
Intestinal research (Intest Res)
. Oct 30, 2020 18(4):412
Full Text (KISS)
Scopus
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7 . Academic Journal
A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog–Scott syndrome
저자
by
Atsuko Noguchi
;
Daiki Kondo
;
Hisato Suzuki
;
Ikuko Takahashi
;
Kenjiro Kosaki
, et al.
소스
Clinical Pediatric Endocrinology. 2024, 33(1):39
Open Access (JSTAGE)
Scopus
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7 . Academic Journal
Genetic Ablation of Pyruvate Dehydrogenase Kinase Isoform 4 Gene Enhances Recovery from Hyperoxic Lung Injury: Insights into Antioxidant and Inflammatory Mechanisms
저자
by
Keisuke Watanabe
;
Akie Kato
;
Hiroyuki Adachi
;
Atsuko Noguchi
;
Hirokazu Arai
, et al.
소스
Biomedicines, Vol 12, Iss 4, p 746 (2024)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
A Survey of Genetic Counseling for Non-invasive Prenatal Testing Examinees in Akita
저자
by
Akiko Fujishima
;
Akira Sato
;
Atsuko Noguchi
;
Hiroshi Miura
;
Ikuko Takahashi
, et al.
소스
JMA Journal. 2022, 5(3):349
Open Access (JSTAGE)
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7 . Academic Journal
Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report
저자
by
Mamiko Yamada
;
Hisato Suzuki
;
Hiroyuki Adachi
;
Atsuko Noguchi
;
Fuyuki Miya
, et al.
소스
BMC Neurology, Vol 22, Iss 1, Pp 1-5 (2022)
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7 . Academic Journal
Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3
저자
by
Keisuke Watanabe
;
Atsuko Noguchi
;
Ikuko Takahashi
;
Mamiko Yamada
;
Hisato Suzuki
, et al.
소스
Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)
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7 . Academic Journal
E44Q mutation in NaV1.7 in a patient with infantile paroxysmal knee pain: electrophysiological analysis of voltage-dependent sodium current
저자
by
Kiichi Takahashi
;
Takayoshi Ohba
;
Yosuke Okamoto
;
Atsuko Noguchi
;
Hiroko Okuda
, et al.
소스
Heliyon, Vol 7, Iss 6, Pp e07396- (2021)
Full Text (ScienceDirect)
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7 . Academic Journal
Development of a Diagnostic Screening Strategy for Niemann–Pick Diseases Based on Simultaneous Liquid Chromatography-Tandem Mass Spectrometry Analyses of N-Palmitoyl-O-phosphocholine-serine and Sphingosylphosphorylcholine
저자
by
Akie Kato
;
Anna Iwahori
;
Atsuko Noguchi
;
Aya Narita
;
Jiro Ogura
, et al.
소스
Biological and Pharmaceutical Bulletin. 2020, 43(9):1398
Open Access (JSTAGE)
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7 . Academic Journal
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report
저자
by
Tomoya Kawazoe
;
Toshiyuki Yamamoto
;
Aya Narita
;
Kousaku Ohno
;
Kaori Adachi
, et al.
소스
BMC Neurology, Vol 18, Iss 1, Pp 1-6 (2018)
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7 . Academic Journal
Seasonal changes in the comb size associated with increased fecal androgen concentration in male Japanese rock ptarmigan (Lagopus muta japonica) / 雄ニホンライチョウにおける糞中アンドロジェン濃度の増加に伴う眼窩上肉冠の季節的変化
저자
by
Atsuko NOGUCHI
;
Hiromu KIMPARA
;
Hiroshi DOMAE
;
Hitoshi MURAI
;
Kazuhito TAJIMA
, et al.
소스
市立大町山岳博物館研究紀要 / Bulletin of the Omachi Alpine Museum. 2020, 5:31
Open Access (JSTAGE)
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