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Bertrand Boisson

Showing results (41-50 of 154) with videos related to

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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.
BMC Genomics|April 4, 2014
HGCS: an online tool for prioritizing disease-causing gene variants by biological distanceYuval Itan, Mark Mazel, Benjamin Mazel, et al.
Nature Communications|November 28, 2025
Expanding the utility of variant effect predictions with phenotype-specific modelsDavid Stein, Meltem Ece Kars, Baptiste Milisavljevic, et al.
Immunity|October 15, 2013
An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasisBertrand Boisson, Chenhui Wang, Vincent Pedergnana, et al.
European Journal of Immunology|March 12, 2025
Two New Kindreds with Complete Factor D DeficiencyMathilde Puel, Kenza Rwayane, Paula Vieira Martins, et al.
The Journal of Allergy and Clinical Immunology|October 11, 2016
Exome and genome sequencing for inborn errors of immunityIsabelle Meyts, Barbara Bosch, Alexandre Bolze, et al.
Frontiers in Immunology|July 13, 2018
CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary ImmunodeficiencyDavid Requena, Patrick Maffucci, Benedetta Bigio, et al.
The Journal of Experimental Medicine|September 30, 2010
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcomaMinji Byun, Avinash Abhyankar, Virginie Lelarge, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 2, 2016
Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkageAziz Belkadi, Vincent Pedergnana, Aurélie Cobat, et al.
American Journal of Hematology|March 10, 2022
Isolated congenital asplenia: An overlooked cause of thrombocytosisOscar Borsani, Takaki Asano, Bertrand Boisson, et al.
Pageof 16

Showing results (41-50 of 154) with videos related to

Sort By:
Pageof 16
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.
BMC Genomics|April 4, 2014
HGCS: an online tool for prioritizing disease-causing gene variants by biological distanceYuval Itan, Mark Mazel, Benjamin Mazel, et al.
Nature Communications|November 28, 2025
Expanding the utility of variant effect predictions with phenotype-specific modelsDavid Stein, Meltem Ece Kars, Baptiste Milisavljevic, et al.
Immunity|October 15, 2013
An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasisBertrand Boisson, Chenhui Wang, Vincent Pedergnana, et al.
European Journal of Immunology|March 12, 2025
Two New Kindreds with Complete Factor D DeficiencyMathilde Puel, Kenza Rwayane, Paula Vieira Martins, et al.
The Journal of Allergy and Clinical Immunology|October 11, 2016
Exome and genome sequencing for inborn errors of immunityIsabelle Meyts, Barbara Bosch, Alexandre Bolze, et al.
Frontiers in Immunology|July 13, 2018
CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary ImmunodeficiencyDavid Requena, Patrick Maffucci, Benedetta Bigio, et al.
The Journal of Experimental Medicine|September 30, 2010
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcomaMinji Byun, Avinash Abhyankar, Virginie Lelarge, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 2, 2016
Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkageAziz Belkadi, Vincent Pedergnana, Aurélie Cobat, et al.
American Journal of Hematology|March 10, 2022
Isolated congenital asplenia: An overlooked cause of thrombocytosisOscar Borsani, Takaki Asano, Bertrand Boisson, et al.
Pageof 16