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Alain Fischer

Showing results (331-340 of 493) with videos related to

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The Journal of Experimental Medicine|December 12, 2012
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")Jana Pachlopnik Schmid, Roxane Lemoine, Nadine Nehme, et al.
The Journal of Allergy and Clinical Immunology|October 15, 2014
An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complexSven Kracker, Michela Di Virgilio, Jeremy Schwartzentruber, et al.
Blood|October 24, 2002
Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000Reinhard A Seger, Tayfun Gungor, Bernd H Belohradsky, et al.
Lancet (London, England)|June 23, 2004
Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiencyCaroline Laffort, Françoise Le Deist, Michel Favre, et al.
Nature Communications|December 19, 2025
Author Correction: Inactivation of cytidine triphosphate synthase 1 prevents fatal auto-immunity in miceClaire Soudais, Romane Schaus, Camille Bachelet, et al.
Nature Communications|September 5, 2014
Megakaryocyte-specific Profilin1-deficiency alters microtubule stability and causes a Wiskott-Aldrich syndrome-like platelet defectMarkus Bender, Simon Stritt, Paquita Nurden, et al.
Blood Advances|January 4, 2018
Extended clinical and genetic spectrum associated with biallelic <i>RTEL1</i> mutationsFabien Touzot, Laetitia Kermasson, Laurent Jullien, et al.
The Journal of Allergy and Clinical Immunology|March 26, 2013
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferationDespina Moshous, Emmanuel Martin, Wassila Carpentier, et al.
Frontiers in Immunology|September 1, 2023
The PID Odyssey 2030: outlooks, unmet needs, hurdles, and opportunities - proceedings from the IPOPI global multi-stakeholders' summit (June 2022)Susan Tadros, Johan Prévot, Isabelle Meyts, et al.
Blood|March 5, 2020
Topoisomerase 2β mutation impairs early B-cell developmentOlivier Papapietro, Anita Chandra, Davide Eletto, et al.
Pageof 50

Showing results (331-340 of 493) with videos related to

Sort By:
Pageof 50
The Journal of Experimental Medicine|December 12, 2012
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")Jana Pachlopnik Schmid, Roxane Lemoine, Nadine Nehme, et al.
The Journal of Allergy and Clinical Immunology|October 15, 2014
An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complexSven Kracker, Michela Di Virgilio, Jeremy Schwartzentruber, et al.
Blood|October 24, 2002
Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985-2000Reinhard A Seger, Tayfun Gungor, Bernd H Belohradsky, et al.
Lancet (London, England)|June 23, 2004
Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiencyCaroline Laffort, Françoise Le Deist, Michel Favre, et al.
Nature Communications|December 19, 2025
Author Correction: Inactivation of cytidine triphosphate synthase 1 prevents fatal auto-immunity in miceClaire Soudais, Romane Schaus, Camille Bachelet, et al.
Nature Communications|September 5, 2014
Megakaryocyte-specific Profilin1-deficiency alters microtubule stability and causes a Wiskott-Aldrich syndrome-like platelet defectMarkus Bender, Simon Stritt, Paquita Nurden, et al.
Blood Advances|January 4, 2018
Extended clinical and genetic spectrum associated with biallelic <i>RTEL1</i> mutationsFabien Touzot, Laetitia Kermasson, Laurent Jullien, et al.
The Journal of Allergy and Clinical Immunology|March 26, 2013
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferationDespina Moshous, Emmanuel Martin, Wassila Carpentier, et al.
Frontiers in Immunology|September 1, 2023
The PID Odyssey 2030: outlooks, unmet needs, hurdles, and opportunities - proceedings from the IPOPI global multi-stakeholders' summit (June 2022)Susan Tadros, Johan Prévot, Isabelle Meyts, et al.
Blood|March 5, 2020
Topoisomerase 2β mutation impairs early B-cell developmentOlivier Papapietro, Anita Chandra, Davide Eletto, et al.
Pageof 50