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R Engelhardt

Showing results (201-210 of 217) with videos related to

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Journal of Clinical Immunology|November 4, 2016
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome SequencingKarin R Engelhardt, Yaobo Xu, Angela Grainger, et al.
Science Translational Medicine|October 2, 2015
Human IFNAR2 deficiency: Lessons for antiviral immunityChristopher J A Duncan, Siti M B Mohamad, Dan F Young, et al.
Blood|June 11, 2020
Germline TET2 loss of function causes childhood immunodeficiency and lymphomaJarmila Stremenova Spegarova, Dylan Lawless, Siti Mardhiana Binti Mohamad, et al.
The Journal of Experimental Medicine|May 2, 2019
Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral toleranceZinan Zhang, Florian Gothe, Perrine Pennamen, et al.
Science Immunology|June 17, 2018
ZNF341 controls STAT3 expression and thereby immunocompetenceStefanie Frey-Jakobs, Julia M Hartberger, Manfred Fliegauf, et al.
American Journal of Human Genetics|March 19, 2024
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndromeCaspar I van der Made, Simone Kersten, Odelia Chorin, et al.
The Journal of Allergy and Clinical Immunology|December 17, 2009
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndromeKarin R Engelhardt, Sean McGhee, Sabine Winkler, et al.
Science Immunology|December 15, 2019
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in <i>STAT2</i>Christopher J A Duncan, Benjamin J Thompson, Rui Chen, et al.
Science Immunology|May 24, 2024
<i>NUDCD3</i> deficiency disrupts V(D)J recombination to cause SCID and Omenn syndromeRui Chen, Elena Lukianova, Ina Schim van der Loeff, et al.
The Journal of Allergy and Clinical Immunology|April 5, 2014
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levelsAtfa Sassi, Sandra Lazaroski, Gang Wu, et al.
Pageof 22

Showing results (201-210 of 217) with videos related to

Sort By:
Pageof 22
Journal of Clinical Immunology|November 4, 2016
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome SequencingKarin R Engelhardt, Yaobo Xu, Angela Grainger, et al.
Science Translational Medicine|October 2, 2015
Human IFNAR2 deficiency: Lessons for antiviral immunityChristopher J A Duncan, Siti M B Mohamad, Dan F Young, et al.
Blood|June 11, 2020
Germline TET2 loss of function causes childhood immunodeficiency and lymphomaJarmila Stremenova Spegarova, Dylan Lawless, Siti Mardhiana Binti Mohamad, et al.
The Journal of Experimental Medicine|May 2, 2019
Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral toleranceZinan Zhang, Florian Gothe, Perrine Pennamen, et al.
Science Immunology|June 17, 2018
ZNF341 controls STAT3 expression and thereby immunocompetenceStefanie Frey-Jakobs, Julia M Hartberger, Manfred Fliegauf, et al.
American Journal of Human Genetics|March 19, 2024
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndromeCaspar I van der Made, Simone Kersten, Odelia Chorin, et al.
The Journal of Allergy and Clinical Immunology|December 17, 2009
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndromeKarin R Engelhardt, Sean McGhee, Sabine Winkler, et al.
Science Immunology|December 15, 2019
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in <i>STAT2</i>Christopher J A Duncan, Benjamin J Thompson, Rui Chen, et al.
Science Immunology|May 24, 2024
<i>NUDCD3</i> deficiency disrupts V(D)J recombination to cause SCID and Omenn syndromeRui Chen, Elena Lukianova, Ina Schim van der Loeff, et al.
The Journal of Allergy and Clinical Immunology|April 5, 2014
Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levelsAtfa Sassi, Sandra Lazaroski, Gang Wu, et al.
Pageof 22