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Jennifer Stoddard

Showing results (21-30 of 40) with videos related to

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Blood|August 27, 2020
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignanciesHye Sun Kuehn, Julie E Niemela, Jennifer Stoddard, et al.
The Journal of Allergy and Clinical Immunology|June 5, 2023
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studiesBrigette Boast, Shubham Goel, Luis I González-Granado, et al.
Nature Communications|June 22, 2023
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signalingCristiane J Nunes-Santos, HyeSun Kuehn, Brigette Boast, et al.
Nature Immunology|October 30, 2013
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiencyCarrie L Lucas, Hye Sun Kuehn, Fang Zhao, et al.
Frontiers in Immunology|August 21, 2023
Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)Jonas Johannes Papendorf, Frédéric Ebstein, Sara Alehashemi, et al.
The Journal of Clinical Investigation|June 12, 2018
Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiencyDavid Boutboul, Hye Sun Kuehn, Zoé Van de Wyngaert, et al.
Blood|April 20, 2021
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulationOttavia M Delmonte, Jenna R E Bergerson, Tomoki Kawai, et al.
Science (New York, N.Y.)|September 13, 2014
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4Hye Sun Kuehn, Weiming Ouyang, Bernice Lo, et al.
The New England Journal of Medicine|April 11, 2014
Glycosylation, hypogammaglobulinemia, and resistance to viral infectionsMohammed A Sadat, Susan Moir, Tae-Wook Chun, et al.
Nature Genetics|October 28, 2017
Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic diseaseChi A Ma, Jeffrey R Stinson, Yuan Zhang, et al.
Pageof 4

Showing results (21-30 of 40) with videos related to

Sort By:
Pageof 4
Blood|August 27, 2020
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignanciesHye Sun Kuehn, Julie E Niemela, Jennifer Stoddard, et al.
The Journal of Allergy and Clinical Immunology|June 5, 2023
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studiesBrigette Boast, Shubham Goel, Luis I González-Granado, et al.
Nature Communications|June 22, 2023
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signalingCristiane J Nunes-Santos, HyeSun Kuehn, Brigette Boast, et al.
Nature Immunology|October 30, 2013
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiencyCarrie L Lucas, Hye Sun Kuehn, Fang Zhao, et al.
Frontiers in Immunology|August 21, 2023
Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)Jonas Johannes Papendorf, Frédéric Ebstein, Sara Alehashemi, et al.
The Journal of Clinical Investigation|June 12, 2018
Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiencyDavid Boutboul, Hye Sun Kuehn, Zoé Van de Wyngaert, et al.
Blood|April 20, 2021
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulationOttavia M Delmonte, Jenna R E Bergerson, Tomoki Kawai, et al.
Science (New York, N.Y.)|September 13, 2014
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4Hye Sun Kuehn, Weiming Ouyang, Bernice Lo, et al.
The New England Journal of Medicine|April 11, 2014
Glycosylation, hypogammaglobulinemia, and resistance to viral infectionsMohammed A Sadat, Susan Moir, Tae-Wook Chun, et al.
Nature Genetics|October 28, 2017
Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic diseaseChi A Ma, Jeffrey R Stinson, Yuan Zhang, et al.
Pageof 4