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Anne Puel

Showing results (71-80 of 296) with videos related to

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The Journal of Allergy and Clinical Immunology|December 26, 2024
The monogenic landscape of human infectious diseasesStéphanie Boisson-Dupuis, Paul Bastard, Vivien Béziat, et al.
The Journal of Allergy and Clinical Immunology|August 17, 2015
Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneityRebeca Pérez de Diego, Silvia Sánchez-Ramón, Eduardo López-Collazo, et al.
NAR Genomics and Bioinformatics|May 28, 2021
Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencingBenedetta Bigio, Yoann Seeleuthner, Gaspard Kerner, et al.
The Journal of Allergy and Clinical Immunology|December 4, 2004
Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasiaTim Niehues, Janine Reichenbach, Jennifer Neubert, et al.
Nature Communications|July 27, 2022
Notch, RORC and IL-23 signals cooperate to promote multi-lineage human innate lymphoid cell differentiationCarys A Croft, Anna Thaller, Solenne Marie, et al.
Journal of Clinical Immunology|July 26, 2020
Disseminated Infectious Disease Caused by Histoplasma capsulatum in an Adult Patient as First Manifestation of Inherited IL-12Rβ1 DeficiencyXimena León-Lara, Leticia Hernández-Nieto, Claudia Vázquez Zamora, et al.
Clinical Immunology (Orlando, Fla.)|March 19, 2010
Primary immunodeficiencies of protective immunity to primary infectionsAziz Bousfiha, Capucine Picard, Stéphanie Boisson-Dupuis, et al.
Journal of Clinical Immunology|November 23, 2024
A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNsAlperen Baran, Aysima Atılgan Lülecioğlu, Liwei Gao, et al.
Journal of Clinical Immunology|March 19, 2020
The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of TranslationKunihiko Moriya, Saori Kadowaki, Tomohiro Nakano, et al.
Journal of Clinical Immunology|May 6, 2020
Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of TranslationKunihiko Moriya, Saori Kadowaki, Tomohiro Nakano, et al.
Pageof 30

Showing results (71-80 of 296) with videos related to

Sort By:
Pageof 30
The Journal of Allergy and Clinical Immunology|December 26, 2024
The monogenic landscape of human infectious diseasesStéphanie Boisson-Dupuis, Paul Bastard, Vivien Béziat, et al.
The Journal of Allergy and Clinical Immunology|August 17, 2015
Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneityRebeca Pérez de Diego, Silvia Sánchez-Ramón, Eduardo López-Collazo, et al.
NAR Genomics and Bioinformatics|May 28, 2021
Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencingBenedetta Bigio, Yoann Seeleuthner, Gaspard Kerner, et al.
The Journal of Allergy and Clinical Immunology|December 4, 2004
Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasiaTim Niehues, Janine Reichenbach, Jennifer Neubert, et al.
Nature Communications|July 27, 2022
Notch, RORC and IL-23 signals cooperate to promote multi-lineage human innate lymphoid cell differentiationCarys A Croft, Anna Thaller, Solenne Marie, et al.
Journal of Clinical Immunology|July 26, 2020
Disseminated Infectious Disease Caused by Histoplasma capsulatum in an Adult Patient as First Manifestation of Inherited IL-12Rβ1 DeficiencyXimena León-Lara, Leticia Hernández-Nieto, Claudia Vázquez Zamora, et al.
Clinical Immunology (Orlando, Fla.)|March 19, 2010
Primary immunodeficiencies of protective immunity to primary infectionsAziz Bousfiha, Capucine Picard, Stéphanie Boisson-Dupuis, et al.
Journal of Clinical Immunology|November 23, 2024
A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNsAlperen Baran, Aysima Atılgan Lülecioğlu, Liwei Gao, et al.
Journal of Clinical Immunology|March 19, 2020
The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of TranslationKunihiko Moriya, Saori Kadowaki, Tomohiro Nakano, et al.
Journal of Clinical Immunology|May 6, 2020
Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of TranslationKunihiko Moriya, Saori Kadowaki, Tomohiro Nakano, et al.
Pageof 30