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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 complex
Sven 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, 1985-2000
Reinhard 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 deficiency
Caroline 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 mice
Claire 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 defect
Markus Bender, Simon Stritt, Paquita Nurden, et al.
Blood Advances
|
January 4, 2018
Extended clinical and genetic spectrum associated with biallelic <i>RTEL1</i> mutations
Fabien 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 lymphoproliferation
Despina 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 development
Olivier Papapietro, Anita Chandra, Davide Eletto, et al.
Page
of 50
Search research articles
Search
Showing results (331-340 of 493) with videos related to
Sort By:
Page
of 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 complex
Sven 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, 1985-2000
Reinhard 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 deficiency
Caroline 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 mice
Claire 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 defect
Markus Bender, Simon Stritt, Paquita Nurden, et al.
Blood Advances
|
January 4, 2018
Extended clinical and genetic spectrum associated with biallelic <i>RTEL1</i> mutations
Fabien 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 lymphoproliferation
Despina 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 development
Olivier Papapietro, Anita Chandra, Davide Eletto, et al.
Page
of 50