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21 . Academic Journal
IKAROS--how many feathers have you lost: mild and severe phenotypes in IKZF1 deficiency.
저자
by
Strauss, Timmy
;
Körholz, Julia
;
Hye Sun Kuehn
;
Gil Silva, Agustin A.
;
Taube, Franziska
, et al.
소스
Frontiers in Pediatrics; 2024, p01-09, 9p
Web of Science
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27 . Academic Journal
Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation
저자
by
Kuehn, Hye Sun
;
Gloude, Nicholas J.
;
Dimmock, David
;
Tokita, Mari
;
Wright, Meredith
, et al.
소스
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases
. 41(6):1241-1249
Web of Science
Scopus
JCR 저널정보
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27 . Academic Journal
Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations
저자
by
Lugo-Reyes, Saul Oswaldo
;
Pastor, Nina
;
González-Serrano, Edith
;
Yamazaki-Nakashimada, Marco Antonio
;
Scheffler-Mendoza, Selma
, et al.
소스
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases
. 41(6):1291-1302
Web of Science
Scopus
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27 . Academic Journal
Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3
저자
by
Wu, Chung Wah
;
Sasa, Ghadir
;
Salih, Amanda
;
Nicholas, Sarah
;
Vogel, Tiphanie P.
, et al.
소스
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases
. 41(6):1420-1423
Web of Science
Scopus
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27 . Academic Journal
A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS
저자
by
Yamashita, Motoi
;
Kuehn, Hye Sun
;
Okuyama, Kazuki
;
Okada, Satoshi
;
Inoue, Yuzaburo
, et al.
소스
Nature Immunology
. 22(7):893-903
Web of Science
Scopus
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27 . Academic Journal
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies
저자
by
Kuehn, Hye Sun
;
Niemela, Julie E.
;
Stoddard, Jennifer
;
Mannurita, Sara Ciullini
;
Shahin, Tala
, et al.
소스
In
Blood
21 January 2021 137(3):349-363
Full Text (ScienceDirect)
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27 . Periodical
Biallelic human SHARPINloss of function induces autoinflammation and immunodeficiency
저자
by
Oda, Hirotsugu
;
Manthiram, Kalpana
;
Chavan, Pallavi Pimpale
;
Rieser, Eva
;
Veli, Önay
, et al.
소스
Nature Immunology; May 2024, Vol. 25 Issue: 5 p764-777, 14p
Web of Science
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27 . Academic Journal
N-Glycan Modification in Covid-19 Pathophysiology: In vitro Structural Changes with Limited Functional Effects
저자
by
Nunes-Santos, Cristiane J.
;
Kuehn, Hye Sun
;
Rosenzweig, Sergio D.
.
소스
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases
. 41(2):335-344
Web of Science
Scopus
JCR 저널정보
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25 . Academic Journal
Tissue specific diversification, virulence and immune response to Mycobacterium bovis BCG in a patient with an IFN-γ R1 deficiency
저자
by
Cecilia B. Korol
;
Shamira J. Shallom
;
Kriti Arora
;
Helena I. Boshoff
;
Alexandra F. Freeman
, et al.
소스
Virulence, Vol 11, Iss 1, Pp 1656-1673 (2020)
Open Access (DOAJ)
Open Access (T&F)
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27 . Academic Journal
IKAROS Family Zinc Finger 1–Associated Diseases in Primary Immunodeficiency Patients
저자
by
Nunes-Santos, Cristiane J.
;
Kuehn, Hye Sun
;
Rosenzweig, Sergio D.
.
소스
In
Immunology and Allergy Clinics of North America
August 2020 40(3):461-470
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