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The Journal of Allergy and Clinical Immunology
|
May 6, 2018
Screening for Wiskott-Aldrich syndrome by flow cytometry
Samuel C C Chiang, Sue M Vergamini, Ammar Husami, et al.
Molecular and Cellular Endocrinology
|
January 30, 2018
Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations
Mariana Gutiérrez, Paula Scaglia, Ana Keselman, et al.
Frontiers in Pediatrics
|
August 19, 2015
Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience
C Alexander Valencia, Ammar Husami, Jennifer Holle, et al.
The Journal of Molecular Diagnostics : JMD
|
May 16, 2017
Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study
Laura J Rasmussen-Torvik, Berta Almoguera, Kimberly F Doheny, et al.
Journal of the Pediatric Infectious Diseases Society
|
December 20, 2022
The 2019-2020 Dengue Fever Epidemic: Genomic Markers Indicating Severity in Dominican Republic Children
Brittany N Simpson, Miguel E Mejía Sang, Yonairy Collado Puello, et al.
The Journal of Allergy and Clinical Immunology
|
April 12, 2025
Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis
Samuel C C Chiang, Li Yang, Erika Owsley, et al.
The Journal of Clinical Investigation
|
June 12, 2018
Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency
David Boutboul, Hye Sun Kuehn, Zoé Van de Wyngaert, et al.
Science (New York, N.Y.)
|
July 25, 2015
AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy
Bernice Lo, Kejian Zhang, Wei Lu, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2016
Clinical delineation of the PACS1-related syndrome--Report on 19 patients
Janneke H M Schuurs-Hoeijmakers, Megan L Landsverk, Nicola Foulds, et al.
Journal of Medical Genetics
|
May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrum
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
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Search research articles
Search
Showing results (31-40 of 41) with videos related to
Sort By:
Page
of 5
The Journal of Allergy and Clinical Immunology
|
May 6, 2018
Screening for Wiskott-Aldrich syndrome by flow cytometry
Samuel C C Chiang, Sue M Vergamini, Ammar Husami, et al.
Molecular and Cellular Endocrinology
|
January 30, 2018
Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations
Mariana Gutiérrez, Paula Scaglia, Ana Keselman, et al.
Frontiers in Pediatrics
|
August 19, 2015
Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience
C Alexander Valencia, Ammar Husami, Jennifer Holle, et al.
The Journal of Molecular Diagnostics : JMD
|
May 16, 2017
Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study
Laura J Rasmussen-Torvik, Berta Almoguera, Kimberly F Doheny, et al.
Journal of the Pediatric Infectious Diseases Society
|
December 20, 2022
The 2019-2020 Dengue Fever Epidemic: Genomic Markers Indicating Severity in Dominican Republic Children
Brittany N Simpson, Miguel E Mejía Sang, Yonairy Collado Puello, et al.
The Journal of Allergy and Clinical Immunology
|
April 12, 2025
Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis
Samuel C C Chiang, Li Yang, Erika Owsley, et al.
The Journal of Clinical Investigation
|
June 12, 2018
Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency
David Boutboul, Hye Sun Kuehn, Zoé Van de Wyngaert, et al.
Science (New York, N.Y.)
|
July 25, 2015
AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy
Bernice Lo, Kejian Zhang, Wei Lu, et al.
American Journal of Medical Genetics. Part A
|
February 5, 2016
Clinical delineation of the PACS1-related syndrome--Report on 19 patients
Janneke H M Schuurs-Hoeijmakers, Megan L Landsverk, Nicola Foulds, et al.
Journal of Medical Genetics
|
May 15, 2023
<i>ARF1</i>-related disorder: phenotypic and molecular spectrum
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, et al.
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of 5