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Isabelle Meyts

Showing results (181-190 of 245) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|May 27, 2024
Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulationQuentin Riller, Boris Sorin, Charline Courteille, et al.
Rheumatology (Oxford, England)|February 13, 2016
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutationsJoris M Van Montfrans, Esther A R Hartman, Kees P J Braun, et al.
The Journal of Clinical Investigation|January 4, 2024
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndromeSelket Delafontaine, Alberto Iannuzzo, Tarin M Bigley, et al.
The Journal of Experimental Medicine|July 19, 2018
Germline-activating mutations in <i>PIK3CD</i> compromise B cell development and functionDanielle T Avery, Alisa Kane, Tina Nguyen, et al.
The Journal of Experimental Medicine|June 21, 2019
Severe influenza pneumonitis in children with inherited TLR3 deficiencyHye Kyung Lim, Sarah X L Huang, Jie Chen, et al.
Mutation Research. Reviews in Mutation Research|September 28, 2025
Mortality rate and causes of death in inborn errors of immunity: A systematic review and meta-analysisSaba Fekrvand, Zahra Hamidi Esfahani, Mohammadmehdi Yarahmadi, et al.
The Journal of Experimental Medicine|January 15, 2025
Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humansQuentin Riller, Boris Sorin, Charline Courteille, et al.
The Journal of Allergy and Clinical Immunology|April 21, 2020
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndromeRosita Rigoni, Elena Fontana, Kerry Dobbs, et al.
The Journal of Allergy and Clinical Immunology|January 26, 2019
Combined liver and hematopoietic stem cell transplantation in patients with X-linked hyper-IgM syndromeGiorgia Bucciol, Sarah K Nicholas, Pier Luigi Calvo, et al.
Blood|April 27, 2016
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotypeJulie Toubiana, Satoshi Okada, Julia Hiller, et al.
Pageof 25

Showing results (181-190 of 245) with videos related to

Sort By:
Pageof 25
Medrxiv : the Preprint Server for Health Sciences|May 27, 2024
Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulationQuentin Riller, Boris Sorin, Charline Courteille, et al.
Rheumatology (Oxford, England)|February 13, 2016
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutationsJoris M Van Montfrans, Esther A R Hartman, Kees P J Braun, et al.
The Journal of Clinical Investigation|January 4, 2024
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndromeSelket Delafontaine, Alberto Iannuzzo, Tarin M Bigley, et al.
The Journal of Experimental Medicine|July 19, 2018
Germline-activating mutations in <i>PIK3CD</i> compromise B cell development and functionDanielle T Avery, Alisa Kane, Tina Nguyen, et al.
The Journal of Experimental Medicine|June 21, 2019
Severe influenza pneumonitis in children with inherited TLR3 deficiencyHye Kyung Lim, Sarah X L Huang, Jie Chen, et al.
Mutation Research. Reviews in Mutation Research|September 28, 2025
Mortality rate and causes of death in inborn errors of immunity: A systematic review and meta-analysisSaba Fekrvand, Zahra Hamidi Esfahani, Mohammadmehdi Yarahmadi, et al.
The Journal of Experimental Medicine|January 15, 2025
Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humansQuentin Riller, Boris Sorin, Charline Courteille, et al.
The Journal of Allergy and Clinical Immunology|April 21, 2020
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndromeRosita Rigoni, Elena Fontana, Kerry Dobbs, et al.
The Journal of Allergy and Clinical Immunology|January 26, 2019
Combined liver and hematopoietic stem cell transplantation in patients with X-linked hyper-IgM syndromeGiorgia Bucciol, Sarah K Nicholas, Pier Luigi Calvo, et al.
Blood|April 27, 2016
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotypeJulie Toubiana, Satoshi Okada, Julia Hiller, et al.
Pageof 25