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1 . Academic Journal
Aurora A polyubiquitinates the BRCA1-interacting protein OLA1 to promote centrosome maturation
저자
by
Fang, Zhenzhou
;
Li, Xingming
;
Yoshino, Yuki
;
Suzuki, Moe
;
Qi, Huicheng
, et al.
소스
In
Cell Reports
29 August 2023 42(8)
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7 . Academic Journal
Nuclear pore pathology underlying multisystem proteinopathy type 3‐related inclusion body myopathy.
저자
by
Izumi, Rumiko
;
Ikeda, Kensuke
;
Niihori, Tetsuya
;
Suzuki, Naoki
;
Shirota, Matsuyuki
, et al.
소스
Annals of Clinical & Translational Neurology
. Mar2024, Vol. 11 Issue 3, p577-592. 16p.
Open Access (Wiley)
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7 . Academic Journal
jMorp: Japanese Multi-Omics Reference Panel update report 2023.
저자
by
Tadaka, Shu
;
Kawashima, Junko
;
Hishinuma, Eiji
;
Saito, Sakae
;
Okamura, Yasunobu
, et al.
소스
Nucleic Acids Research; 1/5/2024, Vol. 52 Issue D1, pD622-D632, 11p
Open Access (OUP)
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7 . Academic Journal
Medication use before and during pregnancy in Japan: the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study
저자
by
Noda, Aoi
;
Obara, Taku
;
Shirota, Matsuyuki
;
Ueno, Fumihiko
;
Matsuzaki, Fumiko
, et al.
소스
European Journal of Clinical Pharmacology
. :1-10
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7 . Academic Journal
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
저자
by
Okubo, Yukimune
;
Shibuya, Moriei
;
Nakamura, Haruhiko
;
Kawashima, Aritomo
;
Kodama, Kaori
, et al.
소스
Brain & Development
. Oct2023, Vol. 45 Issue 9, p505-511. 7p.
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7 . Academic Journal
Phenotypic heterogeneity in individuals with MECOM variants in 2 families
저자
by
Niihori, Tetsuya
;
Tanoshima, Reo
;
Sasahara, Yoji
;
Sato, Atsushi
;
Irie, Masahiro
, et al.
소스
In
Blood Advances
27 September 2022 6(18):5257-5261
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7 . Academic Journal
GWAS Identified IL4R and the Major Histocompatibility Complex Region as the Associated Loci of Total Serum IgE Levels in 9,260 Japanese Individuals
저자
by
Shido, Kosuke
;
Kojima, Kaname
;
Shirota, Matsuyuki
;
Yamasaki, Kenshi
;
Motoike, Ikuko N.
, et al.
소스
In
Journal of Investigative Dermatology
November 2021 141(11):2749-2752
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7 . Periodical
A novel variant in the transmembrane 4 domain of ANO3identified in a two-year-old girl with developmental delay and tremor
저자
by
Aihara, Yu
;
Shirota, Matsuyuki
;
Kikuchi, Atsuo
;
Katata, Yu
;
Abe, Yu
, et al.
소스
Journal of Human Genetics; January 2023, Vol. 68 Issue: 1 p51-54, 4p
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7 . Periodical
Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct
저자
by
Kanno, Miyako
;
Suzuki, Mitsuyoshi
;
Tanikawa, Ken
;
Numakura, Chikahiko
;
Matsuzawa, Shu-ichi
, et al.
소스
Journal of Human Genetics; July 2022, Vol. 67 Issue: 7 p393-397, 5p
Web of Science
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7 . Academic Journal
A novel variant in the transmembrane 4 domain of ANO3 identified in a two-year-old girl with developmental delay and tremor
저자
by
Aihara, Yu
;
Shirota, Matsuyuki
;
Kikuchi, Atsuo
;
Katata, Yu
;
Abe, Yu
, et al.
소스
Journal of Human Genetics
. 68(1):51-54
Web of Science
Scopus
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