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1 . Academic Journal
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
저자
by
Stray-Pedersen, Asbjørg
;
Sorte, Hanne Sørmo
;
Samarakoon, Pubudu
;
Gambin, Tomasz
;
Chinn, Ivan K.
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
January 2017 139(1):232-245
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7 . Academic Journal
Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations
저자
by
Kellner, Erinn S.
;
Krupski, Christa
;
Kuehn, Hye Sun
;
Rosenzweig, Sergio D.
;
Yoshida, Nao
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
July 2019 144(1):339-342
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7 . Academic Journal
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
저자
by
Volpi, Stefano
;
Cicalese, Maria Pia
;
Tuijnenburg, Paul
;
Tool, Anton T.J.
;
Cuadrado, Eloy
, et al.
소스
In
The Journal of Allergy and Clinical Immunology
June 2019 143(6):2296-2299
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7 . Academic Journal
Characterization of the Genomic Structure of the Human Vitamin C Transporter SVCT1 (SLC23A2)
저자
by
Erichsen, Hans Christian
;
Chanock, Stephen
;
Eck, Peter
;
Levine, Mark
.
소스
In
The Journal of Nutrition
October 2001 131(10):2623-2627
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6 . Academic Journal
Primary antibody deficiency: The impact on the quality of life and mental health of affected children and their parents.
저자
by
Berg, Annika Klungland
;
Diseth, Trond H.
;
Abrahamsen, Tore Gunnar
;
Halvorsen, Kathleen
;
Reinfjell, Trude
, et al.
소스
Acta Paediatrica
. May2021, Vol. 110 Issue 5, p1645-1652. 8p.
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7 . Academic Journal
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
저자
by
Strand, Janne
;
Gul, Kiran Aftab
;
Erichsen, Hans Christian
;
Lundman, Emma
;
Berge, Mona C.
, et al.
소스
Frontiers in Immunology; 7/9/2020, Vol. 11, p1-16, 16p
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7 . Periodical
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
저자
by
Lam, Michael T.
;
Coppola, Simona
;
Krumbach, Oliver H.F.
;
Prencipe, Giusi
;
Insalaco, Antonella
, et al.
소스
The Journal of Experimental Medicine; December 2019, Vol. 216 Issue: 12 p2778-2799, 22p
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7 . Academic Journal
Thymus transplantation for complete DiGeorge syndrome: European experience
저자
by
Davies, Graham E.
;
Cheung, Melissa
;
Gilmour, Kimberly
;
Maimaris, Jesmeen
;
Curry, Joe
, et al.
소스
The Journal of Allergy and Clinical Immunology
. Dec 01, 2017 140(6):1660-1670e16
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7 . Academic Journal
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
저자
by
Tesi, Bianca
;
Lagerstedt-Robinson, Kristina
;
Chiang, Samuel C. C.
;
Bdira, Eya Ben
;
Abboud, Miguel
, et al.
소스
Genome Medicine
. 12/18/2015, Vol. 7, p1-13. 13p.
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7 . Academic Journal
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia.
저자
by
Stray-Pedersen, Asbjørg
;
Backe, Paul H.
;
Sorte, Hanne S.
;
Mørkrid, Lars
;
Chokshi, Niti Y.
, et al.
소스
American Journal of Human Genetics
. Jul2014, Vol. 95 Issue 1, p96-107. 12p.
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