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The Journal of Allergy and Clinical Immunology
|
February 6, 2025
Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency
Manar Abdalgani, Evelyn R Hernandez, Luis A Pedroza, et al.
The Journal of Allergy and Clinical Immunology
|
November 8, 2017
Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations
Alexander Vargas-Hernández, Emily M Mace, Ofer Zimmerman, et al.
The Journal of Allergy and Clinical Immunology
|
September 15, 2023
Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency
Joshua B Alinger, Emily M Mace, Justin R Porter, et al.
Genome Medicine
|
December 31, 2025
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families
Haowei Du, Ming Yin Lun, Lidiia Gagarina, et al.
The Journal of Clinical Investigation
|
June 3, 2020
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID
Marcel Kuhny, Lisa R Forbes, Elif Çakan, et al.
Frontiers in Pediatrics
|
February 6, 2019
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature
Aidé Tamara Staines Boone, Ivan K Chinn, Carmen Alaez-Versón, et al.
Frontiers in Immunology
|
December 28, 2020
Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease-A Serious Cause of Mortality
Jacqueline D Squire, Stephanie N Vazquez, Angela Chan, 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.
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.
Medrxiv : the Preprint Server for Health Sciences
|
April 2, 2024
Closing the gap: Solving complex medically relevant genes at scale
Medhat Mahmoud, John Harting, Holly Corbitt, et al.
Page
of 14
Search research articles
Search
Showing results (101-110 of 135) with videos related to
Sort By:
Page
of 14
The Journal of Allergy and Clinical Immunology
|
February 6, 2025
Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency
Manar Abdalgani, Evelyn R Hernandez, Luis A Pedroza, et al.
The Journal of Allergy and Clinical Immunology
|
November 8, 2017
Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations
Alexander Vargas-Hernández, Emily M Mace, Ofer Zimmerman, et al.
The Journal of Allergy and Clinical Immunology
|
September 15, 2023
Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency
Joshua B Alinger, Emily M Mace, Justin R Porter, et al.
Genome Medicine
|
December 31, 2025
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families
Haowei Du, Ming Yin Lun, Lidiia Gagarina, et al.
The Journal of Clinical Investigation
|
June 3, 2020
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID
Marcel Kuhny, Lisa R Forbes, Elif Çakan, et al.
Frontiers in Pediatrics
|
February 6, 2019
Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature
Aidé Tamara Staines Boone, Ivan K Chinn, Carmen Alaez-Versón, et al.
Frontiers in Immunology
|
December 28, 2020
Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease-A Serious Cause of Mortality
Jacqueline D Squire, Stephanie N Vazquez, Angela Chan, 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.
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.
Medrxiv : the Preprint Server for Health Sciences
|
April 2, 2024
Closing the gap: Solving complex medically relevant genes at scale
Medhat Mahmoud, John Harting, Holly Corbitt, et al.
Page
of 14