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Patrick Revy

Showing results (31-40 of 94) with videos related to

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Molecular Medicine (Cambridge, Mass.)|April 6, 2026
Functional impact of the eIF6 N106S mutation on ribosome biogenesis in wild type and Shwachman-Diamond syndrome cellsAlexis Bertrand, Sarah Le Page, Vithura Pirabakaran, et al.
Pediatric Transplantation|May 4, 2011
Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantationDeniz Çağdaş, Tuba Turul Özgür, Gülten Türkkanı Asal, et al.
Nature Communications|February 3, 2016
RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repairChloé Lescale, Vincent Abramowski, Marie Bedora-Faure, et al.
Oncotarget|February 10, 2018
Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemiaEmilie Lesport, Alina Ferster, Armand Biver, et al.
British Journal of Haematology|October 8, 2024
Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancyHolger Cario, Alexis Bertrand, Shengjiang Tan, et al.
Human Mutation|February 6, 2016
Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH DomainLaurent Jullien, Caroline Kannengiesser, Laetitia Kermasson, et al.
Nucleic Acids Research|January 29, 2015
Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNAMichael Schertzer, Karina Jouravleva, Mylene Perderiset, et al.
Molecular and Cellular Biology|December 5, 2012
Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humansGabriella Vera, Paola Rivera-Munoz, Vincent Abramowski, et al.
The Journal of Allergy and Clinical Immunology|November 15, 2011
Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenitaFabien Touzot, Laetitia Gaillard, Nadia Vasquez, et al.
Cell Reports|December 30, 2020
A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and HumansMarie Chansel-Da Cruz, Marcel Hohl, Ilaria Ceppi, et al.
Pageof 10

Showing results (31-40 of 94) with videos related to

Sort By:
Pageof 10
Molecular Medicine (Cambridge, Mass.)|April 6, 2026
Functional impact of the eIF6 N106S mutation on ribosome biogenesis in wild type and Shwachman-Diamond syndrome cellsAlexis Bertrand, Sarah Le Page, Vithura Pirabakaran, et al.
Pediatric Transplantation|May 4, 2011
Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantationDeniz Çağdaş, Tuba Turul Özgür, Gülten Türkkanı Asal, et al.
Nature Communications|February 3, 2016
RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repairChloé Lescale, Vincent Abramowski, Marie Bedora-Faure, et al.
Oncotarget|February 10, 2018
Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemiaEmilie Lesport, Alina Ferster, Armand Biver, et al.
British Journal of Haematology|October 8, 2024
Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancyHolger Cario, Alexis Bertrand, Shengjiang Tan, et al.
Human Mutation|February 6, 2016
Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH DomainLaurent Jullien, Caroline Kannengiesser, Laetitia Kermasson, et al.
Nucleic Acids Research|January 29, 2015
Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNAMichael Schertzer, Karina Jouravleva, Mylene Perderiset, et al.
Molecular and Cellular Biology|December 5, 2012
Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humansGabriella Vera, Paola Rivera-Munoz, Vincent Abramowski, et al.
The Journal of Allergy and Clinical Immunology|November 15, 2011
Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenitaFabien Touzot, Laetitia Gaillard, Nadia Vasquez, et al.
Cell Reports|December 30, 2020
A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and HumansMarie Chansel-Da Cruz, Marcel Hohl, Ilaria Ceppi, et al.
Pageof 10