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1 . Academic Journal
Differential toxicity and localization of arginine-rich C9ORF72 dipeptide repeat proteins depend on de-clustering of positive charges
저자
by
Miyagi, Tamami
;
Ueda, Koji
;
Sugimoto, Masahiro
;
Yagi, Takuya
;
Ito, Daisuke
, et al.
소스
In
iScience
16 June 2023 26(6)
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7 . Academic Journal
Letter to the Editor regarding “Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis”
저자
by
Sato, Takeshi
;
Nakano, Satsuki
;
Honda, Misa
;
Narumi, Satoshi
;
Ishii, Tomohiro
, et al.
소스
In
Journal of Steroid Biochemistry and Molecular Biology
May 2024 239
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7 . Academic Journal
Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica
저자
by
Takeda, Ryojun
;
Takagi, Masaki
;
Shinohara, Hiroyuki
;
Futagawa, Hiroshi
;
Narumi, Satoshi
, et al.
소스
In
European Journal of Medical Genetics
December 2017 60(12):635-638
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7 . Periodical
Single-Exon Deletions of ZNRF3Exon 2 Cause Congenital Adrenal Hypoplasia
저자
by
Amano, Naoko
;
Narumi, Satoshi
;
Aizu, Katsuya
;
Miyazawa, Mari
;
Okamura, Kohji
, et al.
소스
The Journal of Clinical Endocrinology & Metabolism; March 2024, Vol. 109 Issue: 3 p641-648, 8p
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7 . Academic Journal
Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities
저자
by
Narumi, Satoshi
;
Nagasaki, Keisuke
;
Kiriya, Mitsuo
;
Uehara, Erika
;
Akiba, Kazuhisa
, et al.
소스
Nature Genetics
. 56(5):869-876
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7 . Periodical
Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1
저자
by
Takeuchi, Ichiro
;
Tanase-Nakao, Kanako
;
Ogawa, Ayame
;
Sugawara, Tohru
;
Migita, Osuke
, et al.
소스
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 3 p239-243, 5p
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7 . Academic Journal
Parathyroid adenoma with a somatic CASR pathogenic variant: A pediatric case report.
저자
by
Kawata, Kento
;
Sato, Takeshi
;
Honda, Misa
;
Narumi, Satoshi
;
Kameyama, Kaori
, et al.
소스
Pediatric Blood & Cancer; Dec2023, Vol. 70 Issue 12, p1-3, 3p
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7 . Academic Journal
Novel biallelic mutations in the DUOX2 gene underlying very early-onset inflammatory bowel disease: A case report
저자
by
Kyodo, Reiko
;
Takeuchi, Ichiro
;
Narumi, Satoshi
;
Shimizu, Hirotaka
;
Hata, Kenichiro
, et al.
소스
In
Clinical Immunology
May 2022 238
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7 . Academic Journal
A Small-for-Gestational-Age Infant with MIRAGE Syndrome Who Developed Heat Stroke and Rhabdomyolysis due to Severe Temperature Instability.
저자
by
Saito, Kana
;
Nakagawa, Ryota
;
Narumi, Satoshi
;
Ohashi, Hirofumi
;
Ishiguro, Akiko
, et al.
소스
Neonatology (16617800)
. 2023, Vol. 120 Issue 3, p390-394. 5p.
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7 . Academic Journal
Adult Thyroid Outcomes of Congenital Hypothyroidism.
저자
by
Sugisawa, Chiho
;
Narumi, Satoshi
;
Tanase-Nakao, Kanako
;
Hoshiyama, Ayako
;
Suzuki, Nami
, et al.
소스
Thyroid
. May2023, Vol. 33 Issue 5, p556-565. 10p.
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