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Medrxiv : the Preprint Server for Health Sciences
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February 24, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in <i>ADA</i> , <i>DCLRE1C</i> , <i>IL2RG</i> , <i>IL7R</i> , <i>JAK3</i> , <i>RAG1</i> , and <i>RAG2</i>
Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 17, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2
Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, et al.
Clinical and Translational Medicine
|
September 23, 2022
Ketogenic diets in healthy dogs induce gut and serum metabolome changes suggestive of anti-tumourigenic effects: A model for human ketotherapy trials
Karin Allenspach, Dana C Borcherding, Chelsea A Iennarella-Servantez, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology
|
October 13, 2021
Multiomic analysis defines the first microRNA atlas across all small intestinal epithelial lineages and reveals novel markers of almost all major cell types
Michael T Shanahan, Matt Kanke, Oyebola O Oyesola, et al.
JCI Insight
|
December 8, 2022
An ELF4 hypomorphic variant results in NK cell deficiency
Sandra Andrea Salinas, Emily M Mace, Matilde I Conte, et al.
The Journal of Experimental Medicine
|
May 23, 2024
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Victoria E Rael, Julian A Yano, John P Huizar, et al.
The Journal of Allergy and Clinical Immunology
|
August 10, 2018
Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations
Lisa R Forbes, Tiphanie P Vogel, Megan A Cooper, et al.
American Journal of Human Genetics
|
November 17, 2020
Multiplexed Functional Assessment of Genetic Variants in CARD11
Iana Meitlis, Eric J Allenspach, Bradly M Bauman, et al.
The Journal of Allergy and Clinical Immunology. in Practice
|
June 4, 2026
IMPACT (Immune Monitoring and Phenotype Assessment of Clinical Trajectory) for Patients with Inborn Errors of Immunity from the Primary Immune Deficiency Treatment Consortium (PIDTC)
Danielle E Arnold, Hesham Eissa, Elizabeth Dunn, et al.
JBMR Plus
|
January 12, 2026
Evaluating the osteoclastogenic potential of peripheral blood mononuclear cells in children with chronic nonbacterial osteomyelitis
Jacqueline P Bui, Jacob M Curry, Jessica M Kent, et al.
Page
of 38
Search research articles
Search
Showing results (361-370 of 378) with videos related to
Sort By:
Page
of 38
Medrxiv : the Preprint Server for Health Sciences
|
February 24, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in <i>ADA</i> , <i>DCLRE1C</i> , <i>IL2RG</i> , <i>IL7R</i> , <i>JAK3</i> , <i>RAG1</i> , and <i>RAG2</i>
Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 17, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2
Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, et al.
Clinical and Translational Medicine
|
September 23, 2022
Ketogenic diets in healthy dogs induce gut and serum metabolome changes suggestive of anti-tumourigenic effects: A model for human ketotherapy trials
Karin Allenspach, Dana C Borcherding, Chelsea A Iennarella-Servantez, et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology
|
October 13, 2021
Multiomic analysis defines the first microRNA atlas across all small intestinal epithelial lineages and reveals novel markers of almost all major cell types
Michael T Shanahan, Matt Kanke, Oyebola O Oyesola, et al.
JCI Insight
|
December 8, 2022
An ELF4 hypomorphic variant results in NK cell deficiency
Sandra Andrea Salinas, Emily M Mace, Matilde I Conte, et al.
The Journal of Experimental Medicine
|
May 23, 2024
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
Victoria E Rael, Julian A Yano, John P Huizar, et al.
The Journal of Allergy and Clinical Immunology
|
August 10, 2018
Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations
Lisa R Forbes, Tiphanie P Vogel, Megan A Cooper, et al.
American Journal of Human Genetics
|
November 17, 2020
Multiplexed Functional Assessment of Genetic Variants in CARD11
Iana Meitlis, Eric J Allenspach, Bradly M Bauman, et al.
The Journal of Allergy and Clinical Immunology. in Practice
|
June 4, 2026
IMPACT (Immune Monitoring and Phenotype Assessment of Clinical Trajectory) for Patients with Inborn Errors of Immunity from the Primary Immune Deficiency Treatment Consortium (PIDTC)
Danielle E Arnold, Hesham Eissa, Elizabeth Dunn, et al.
JBMR Plus
|
January 12, 2026
Evaluating the osteoclastogenic potential of peripheral blood mononuclear cells in children with chronic nonbacterial osteomyelitis
Jacqueline P Bui, Jacob M Curry, Jessica M Kent, et al.
Page
of 38