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1 . Academic Journal
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies
저자
by
Boast, Brigette
;
Goel, Shubham
;
González-Granado, Luis I.
;
Niemela, Julie
;
Stoddard, Jennifer
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
September 2023 152(3):736-747
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7 . Academic Journal
Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma.
저자
by
Mohsin, Noreen
;
Hunt, Devin
;
Yan, Jia
;
Jabbour, Austin J.
;
Nghiem, Paul
, et al.
소스
JAMA Dermatology; Feb2024, Vol. 160 Issue 2, p172-178, 7p
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7 . Academic Journal
Early-Onset Merkel Cell Carcinoma is Associated with Germline Defects in DNA Repair Genes and a Rare Immunodeficiency
저자
by
Moshin, Noreen
;
Hunt, Devin
;
Jabbour, Austin J.
;
Nghiem, Paul
;
Freemam, Alexandra F.
, et al.
소스
In
Journal of Investigative Dermatology
October 2022 142(10):2839-2839
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7 . Academic Journal
Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.
저자
by
Lisco, Andrea
;
Ortega-Villa, Ana M.
;
Mystakelis, Harry
;
Anderson, Megan V.
;
Mateja, Allyson
, et al.
소스
New England Journal of Medicine
. 5/4/2023, Vol. 388 Issue 18, p1680-1691. 12p.
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7 . Academic Journal
Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis.
저자
by
Drummond, Rebecca A.
;
Desai, Jigar V.
;
Hsu, Amy P.
;
Oikonomou, Vasileios
;
Vinh, Donald C.
, et al.
소스
Journal of Clinical Investigation
. 11/15/2022, Vol. 132 Issue 22, p1-14. 14p.
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7 . Academic Journal
Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.
저자
by
Ferré, Elise M. N.
;
Yunting Yu
;
Oikonomou, Vasileios
;
Hilfanova, Anna
;
Lee, Chyi-Chia R.
, et al.
소스
Frontiers in Immunology; 2/17/2023, Vol. 14, p1-8, 8p
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7 . Academic Journal
FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia.
저자
by
Ghosh, Rajarshi
;
Bosticardo, Marita
;
Singh, Sunita
;
Similuk, Morgan
;
Delmonte, Ottavia M.
, et al.
소스
Journal of Allergy & Clinical Immunology; Dec2022, Vol. 150 Issue 6, p1556-1562, 7p
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7 .
Autosomal dominant distal myopathy due to a novel ACTA1 mutation
저자
by
Liewluck, Teerin
;
Sorenson, Eric J.
;
Walkiewicz, Magdalena A.
;
Rumilla, Kandelaria M.
;
Milone, Margherita
.
소스
In
Neuromuscular Disorders
August 2017 27(8):742-746
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7 . Periodical
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation
저자
by
Delmonte, Ottavia M.
;
Bergerson, Jenna R. E.
;
Kawai, Tomoki
;
Kuehn, Hye Sun
;
McDermott, David H.
, et al.
소스
Blood; September 2021, Vol. 138 Issue: 12 p1019-1033, 15p
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7 . Periodical
SASH3variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation
저자
by
Delmonte, Ottavia M.
;
Bergerson, Jenna R.E.
;
Kawai, Tomoki
;
Kuehn, Hye Sun
;
McDermott, David H.
, et al.
소스
Blood; September 2021, Vol. 138 Issue: 12 p1019-1033, 15p
Full Text (ScienceDirect)
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