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Capucine Picard

Showing results (191-200 of 400) with videos related to

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The Journal of Allergy and Clinical Immunology|December 17, 2009
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasiaChristie-Ann McCarl, Capucine Picard, Sara Khalil, et al.
Human Molecular Genetics|January 4, 2024
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disordersAlexis Bertrand, Ibrahima Ba, Laëtitia Kermasson, et al.
Gastroenterology|December 18, 2018
Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function MutationMarianna Parlato, Fabienne Charbit-Henrion, Elie Abi Nader, et al.
Journal of Clinical Immunology|October 21, 2020
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 ReactivationShiho Nishimura, Yoshiyuki Kobayashi, Hidenori Ohnishi, et al.
Kidney International|September 24, 2021
A very uncommon cause of acute kidney injury in infancyGuillaume Dorval, Estelle Balducci, Sophie Kaltenbach, 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.
Blood|March 5, 2020
Topoisomerase 2β mutation impairs early B-cell developmentOlivier Papapietro, Anita Chandra, Davide Eletto, et al.
The Journal of Allergy and Clinical Immunology|April 5, 2011
Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesisChantal Lagresle-Peyrou, Bénédicte Neven, Emmanuelle Six, et al.
Human Mutation|June 7, 2017
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosisVirginie Grandin, Fernando E Sepulveda, Nathalie Lambert, et al.
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.
Pageof 40

Showing results (191-200 of 400) with videos related to

Sort By:
Pageof 40
The Journal of Allergy and Clinical Immunology|December 17, 2009
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasiaChristie-Ann McCarl, Capucine Picard, Sara Khalil, et al.
Human Molecular Genetics|January 4, 2024
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disordersAlexis Bertrand, Ibrahima Ba, Laëtitia Kermasson, et al.
Gastroenterology|December 18, 2018
Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function MutationMarianna Parlato, Fabienne Charbit-Henrion, Elie Abi Nader, et al.
Journal of Clinical Immunology|October 21, 2020
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 ReactivationShiho Nishimura, Yoshiyuki Kobayashi, Hidenori Ohnishi, et al.
Kidney International|September 24, 2021
A very uncommon cause of acute kidney injury in infancyGuillaume Dorval, Estelle Balducci, Sophie Kaltenbach, 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.
Blood|March 5, 2020
Topoisomerase 2β mutation impairs early B-cell developmentOlivier Papapietro, Anita Chandra, Davide Eletto, et al.
The Journal of Allergy and Clinical Immunology|April 5, 2011
Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesisChantal Lagresle-Peyrou, Bénédicte Neven, Emmanuelle Six, et al.
Human Mutation|June 7, 2017
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosisVirginie Grandin, Fernando E Sepulveda, Nathalie Lambert, et al.
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.
Pageof 40