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41 . Academic Journal
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease
저자
by
Lalaoui, Najoua
;
Boyden, Steven E.
;
Oda, Hirotsugu
;
Wood, Geryl M.
;
Stone, Deborah L.
, et al.
소스
Nature: International weekly journal of science
. 577(7788):103-108
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47 . Academic Journal
A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity
저자
by
Stojkic, Ivana
;
Prince, Benjamin T.
;
Kuehn, Hye Sun
;
Gil Silva, Agustin A.
;
Varga, Elizabeth A.
, et al.
소스
In
Clinical Immunology
July 2024 264
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47 . Academic Journal
Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB
저자
by
Wu, Eveline Y.
;
Kuehn, Hye Sun
;
Rosenzweig, Sergio D.
;
Aksentijevich, Ivona
;
McShane, Diana B.
.
소스
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases
. 41(1):224-226
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47 . Academic Journal
213 IKAROS negatively regulate memory T cell formation in humans
저자
by
Tagirasa, Ravichandra
;
Kueh, HyeSun
;
Bosticardo, Marita
;
Pala, Francesca
;
Amini, Kayla
, et al.
소스
In
Clinical Immunology
May 2024 262 Supplement
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47 . Academic Journal
211 Biallelic null mutations in PPM1D cause a novel combined immunodeficiency with severe neurodevelopmental defects
저자
by
Sole, Ana Esteve
;
González-Granado, Luis Ignacio
;
Boast, Brigette
;
Niemela, Julie E.
;
Stoddart, Jennifer L.
, et al.
소스
In
Clinical Immunology
May 2024 262 Supplement
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47 . Academic Journal
108 PU.1-associated inborn errors of immunity: new mutations, phenotypes, and inheritance patterns
저자
by
Knox, Ainsley
;
Platt, Craig
;
Casanova, Jean-Laurent
;
Seppänen, Mikko
;
Sullivan, Kathleen
, et al.
소스
In
Clinical Immunology
May 2024 262 Supplement
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47 . Academic Journal
Mulibrey nanism and immunological complications: a comprehensive case report and literature review.
저자
by
Gazzin, Andrea
;
Pala, Francesca
;
Bosticardo, Marita
;
Niemela, Julie
;
Stoddard, Jennifer
, et al.
소스
Frontiers in Immunology; 2023, p1-9, 9p
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47 . Academic Journal
103 Biallelic OSMR deficiency causes a novel primary atopic disorder
저자
by
Samra, Simran
;
Sharma, Mehul
;
Bel, Kate L. Del
;
Liu, Yihui
;
James, Alyssa E.
, et al.
소스
In
Clinical Immunology
May 2024 262 Supplement
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47 . Academic Journal
Common Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS
저자
by
Yilmaz, Ebru
;
Kuehn, Hye S.
;
Odakir, Eda
;
Niemela, Julie E.
;
Ozcan, Alper
, et al.
소스
Journal of Pediatric Hematology/Oncology
. Oct 28, 2020
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47 . Academic Journal
Spleen and Liver Volumetrics as Surrogate Markers of Hepatic Venous Pressure Gradient in Patients With Noncirrhotic Portal Hypertension
저자
by
Ohad Etzion
;
Varun Takyar
;
Victor Novack
;
Ahmed M. Gharib
;
Raissa Canales
, et al.
소스
Hepatology Communications, Vol 2, Iss 8, Pp 923-932 (2018)
Open Access (DOAJ)
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