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Isabelle Meyts

Showing results (171-180 of 245) with videos related to

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The Journal of Allergy and Clinical Immunology|March 13, 2026
Discovering patterns in the pathologic significance of non-missense deleterious variants in RELAHiroko Hayakawa, Miyuki Tsumura, Takanori Utsumi, et al.
The Journal of Allergy and Clinical Immunology|January 15, 2017
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signalingIsabelle Melki, Yoann Rose, Carolina Uggenti, et al.
The Lancet. Neurology|August 16, 2024
Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trialStefan Zielen, Thomas Crawford, Luca Benatti, et al.
The Journal of Allergy and Clinical Immunology|April 24, 2020
Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropeniaErika Van Nieuwenhove, John S Barber, Julika Neumann, et al.
Iscience|May 26, 2023
Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypesBergithe E Oftedal, Kristian Assing, Safa Baris, et al.
The Journal of Allergy and Clinical Immunology|February 10, 2019
Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4<sup>+</sup> T cellsJulia Bier, Geetha Rao, Kathryn Payne, et al.
Medrxiv : the Preprint Server for Health Sciences|June 26, 2025
Inborn errors of immunity: manifestation, treatment, and outcome - an ESID registry 1994-2024 report on 30,628 patientsGerhard Kindle, Mickaël Alligon, Michael H Albert, et al.
Journal of Human Immunity|December 5, 2025
Inborn errors of immunity: Manifestation, treatment, and outcome-an ESID registry 1994-2024 report on 30,628 patientsGerhard Kindle, Mickaël Alligon, Michael H Albert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 5, 2022
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defectsAuriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, et al.
The Journal of Clinical Investigation|September 22, 2020
Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiencyPaul Bastard, Jeremy Manry, Jie Chen, et al.
Pageof 25

Showing results (171-180 of 245) with videos related to

Sort By:
Pageof 25
The Journal of Allergy and Clinical Immunology|March 13, 2026
Discovering patterns in the pathologic significance of non-missense deleterious variants in RELAHiroko Hayakawa, Miyuki Tsumura, Takanori Utsumi, et al.
The Journal of Allergy and Clinical Immunology|January 15, 2017
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signalingIsabelle Melki, Yoann Rose, Carolina Uggenti, et al.
The Lancet. Neurology|August 16, 2024
Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trialStefan Zielen, Thomas Crawford, Luca Benatti, et al.
The Journal of Allergy and Clinical Immunology|April 24, 2020
Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropeniaErika Van Nieuwenhove, John S Barber, Julika Neumann, et al.
Iscience|May 26, 2023
Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypesBergithe E Oftedal, Kristian Assing, Safa Baris, et al.
The Journal of Allergy and Clinical Immunology|February 10, 2019
Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4<sup>+</sup> T cellsJulia Bier, Geetha Rao, Kathryn Payne, et al.
Medrxiv : the Preprint Server for Health Sciences|June 26, 2025
Inborn errors of immunity: manifestation, treatment, and outcome - an ESID registry 1994-2024 report on 30,628 patientsGerhard Kindle, Mickaël Alligon, Michael H Albert, et al.
Journal of Human Immunity|December 5, 2025
Inborn errors of immunity: Manifestation, treatment, and outcome-an ESID registry 1994-2024 report on 30,628 patientsGerhard Kindle, Mickaël Alligon, Michael H Albert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 5, 2022
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defectsAuriane Cospain, Ana Rivera-Barahona, Erwan Dumontet, et al.
The Journal of Clinical Investigation|September 22, 2020
Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiencyPaul Bastard, Jeremy Manry, Jie Chen, et al.
Pageof 25