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1 . Academic Journal
Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia
저자
by
Takada, Sanami
;
Weitering, Thomas J.
;
van Os, Nienke J.H.
;
Du, Likun
;
Pico-Knijnenburg, Ingrid
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
May 2024 153(5):1392-1405
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7 . Academic Journal
ATM: Translating the DNA Damage Response to Adaptive Immunity
저자
by
Weitering, Thomas J.
;
Takada, Sanami
;
Weemaes, Corry M.R.
;
van Schouwenburg, Pauline A.
;
van der Burg, Mirjam
.
소스
In
Trends in Immunology
April 2021 42(4):350-365
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7 . Academic Journal
Human phenotype caused by biallelic KDM4B frameshift variant.
저자
by
Takada, Sanami
;
Silva, Sebastián
;
Zamorano, Ivonne
;
Pérez, Andrea
;
Iwabuchi, Chisato
, et al.
소스
Clinical Genetics
. Jan2024, Vol. 105 Issue 1, p72-76. 5p.
Web of Science
Scopus
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7 . Academic Journal
rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases.
저자
by
Hitomi, Yuki
;
Ueno, Kazuko
;
Aiba, Yoshihiro
;
Nishida, Nao
;
Kawai, Yosuke
, et al.
소스
Human Genetics
. Jan2024, Vol. 143 Issue 1, p19-33. 15p.
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7 . Academic Journal
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
저자
by
Riquelme, Joel
;
Takada, Sanami
;
van Dijk, Tessa
;
Peña, Fernanda
;
Boogaard, Merel W.
, et al.
소스
Hormone Research in Paediatrics
. 2021, Vol. 94 Issue 11/12, p448-455. 8p.
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7 . Academic Journal
rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms.
저자
by
Hitomi, Yuki
;
Aiba, Yoshihiro
;
Ueno, Kazuko
;
Nishida, Nao
;
Kawai, Yosuke
, et al.
소스
Human Genomics; 10/21/2022, Vol. 16 Issue 1, p1-12, 12p
Open Access (BioMed Central)
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7 . Academic Journal
A Pitfall of Whole Exome Sequencing: Variants in the 5′UTR Splice Site of BTK Causing XLA.
저자
by
Takada, Sanami
;
Pico-Knijnenburg, Ingrid
;
Pac, Malgorzata
;
Warris, Adilia
;
van der Burg, Mirjam
.
소스
Journal of Clinical Immunology
. Apr2022, Vol. 42 Issue 3, p709-712. 4p.
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7 . Academic Journal
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.
저자
by
Garrelfs, Mark R.
;
Takada, Sanami
;
Kamsteeg, Erik-Jan
;
Pegge, Sjoert
;
Mancini, Grazia
, et al.
소스
Pediatric Neurology
. Dec2020, Vol. 113, p26-32. 7p.
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7 . Academic Journal
Staphylococcus Agr virulence is critical for epidermal colonization and associates with atopic dermatitis development.
저자
by
Nakamura, Yuumi
;
Takahashi, Hiroki
;
Takaya, Akiko
;
Inoue, Yuzaburo
;
Katayama, Yuki
, et al.
소스
Science Translational Medicine; 7/8/2020, Vol. 12 Issue 551, p1-11, 11p
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7 . Academic Journal
Pluripotent stem cell models of Blau syndrome reveal an IFN-γ–dependent inflammatory response in macrophages
저자
by
Takada, Sanami
;
Kambe, Naotomo
;
Kawasaki, Yuri
;
Niwa, Akira
;
Honda-Ozaki, Fumiko
, et al.
소스
The Journal of Allergy and Clinical Immunology
. Jan 01, 2018 141(1):339-349,349e1–349e11
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