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Bertrand Boisson

Showing results (51-60 of 154) with videos related to

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Journal of Human Immunity|September 17, 2025
Re-evaluation of the contribution of <i>TNFRSF13B</i> variants to antibody deficiencyHassan Abolhassani, Andres Caballero-Oteyza, Mingyu Yang, et al.
The Journal of Allergy and Clinical Immunology. Global|April 25, 2025
A novel <i>CARD11</i> heterozygous missense variant in a CADINS patientRanda S AlYafie, Mehdi Adeli, Dinesh Velayutham, et al.
Nature Genetics|July 19, 2016
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discoveryEric M Scott, Anason Halees, Yuval Itan, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 7, 2021
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritanceFranck Rapaport, Bertrand Boisson, Anne Gregor, et al.
Journal of Immunology (Baltimore, Md. : 1950)|November 24, 2020
Multibatch Cytometry Data Integration for Optimal ImmunophenotypingMasato Ogishi, Rui Yang, Conor Gruber, et al.
Nature Methods|January 29, 2016
The mutation significance cutoff: gene-level thresholds for variant predictionsYuval Itan, Lei Shang, Bertrand Boisson, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 28, 2022
Genome-wide detection of human variants that disrupt intronic branchpointsPeng Zhang, Quentin Philippot, Weicheng Ren, et al.
Nature Immunology|June 15, 2026
Pyoderma gangrenosum caused by the molecular uncoupling of OTULIN catalytic activity and LUBAC bindingBarathram Swaminathan, Hwi M Gil, Sagar Bhattad, et al.
Developmental Cell|May 8, 2012
Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 moduleMatthew Koss, Alexandre Bolze, Andrea Brendolan, et al.
Plos Genetics|November 14, 2014
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemiaAsmaa Mamoune, Michel Bahuau, Yamina Hamel, et al.
Pageof 16

Showing results (51-60 of 154) with videos related to

Sort By:
Pageof 16
Journal of Human Immunity|September 17, 2025
Re-evaluation of the contribution of <i>TNFRSF13B</i> variants to antibody deficiencyHassan Abolhassani, Andres Caballero-Oteyza, Mingyu Yang, et al.
The Journal of Allergy and Clinical Immunology. Global|April 25, 2025
A novel <i>CARD11</i> heterozygous missense variant in a CADINS patientRanda S AlYafie, Mehdi Adeli, Dinesh Velayutham, et al.
Nature Genetics|July 19, 2016
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discoveryEric M Scott, Anason Halees, Yuval Itan, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 7, 2021
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritanceFranck Rapaport, Bertrand Boisson, Anne Gregor, et al.
Journal of Immunology (Baltimore, Md. : 1950)|November 24, 2020
Multibatch Cytometry Data Integration for Optimal ImmunophenotypingMasato Ogishi, Rui Yang, Conor Gruber, et al.
Nature Methods|January 29, 2016
The mutation significance cutoff: gene-level thresholds for variant predictionsYuval Itan, Lei Shang, Bertrand Boisson, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 28, 2022
Genome-wide detection of human variants that disrupt intronic branchpointsPeng Zhang, Quentin Philippot, Weicheng Ren, et al.
Nature Immunology|June 15, 2026
Pyoderma gangrenosum caused by the molecular uncoupling of OTULIN catalytic activity and LUBAC bindingBarathram Swaminathan, Hwi M Gil, Sagar Bhattad, et al.
Developmental Cell|May 8, 2012
Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 moduleMatthew Koss, Alexandre Bolze, Andrea Brendolan, et al.
Plos Genetics|November 14, 2014
A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemiaAsmaa Mamoune, Michel Bahuau, Yamina Hamel, et al.
Pageof 16