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Patrick Revy

Showing results (51-60 of 94) with videos related to

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Journal of Human Immunity|May 8, 2026
Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variantsNidia Moreno-Corona, Alice Valagussa, Lucie Poggi, et al.
Cell Death and Differentiation|October 28, 2017
PAXX and Xlf interplay revealed by impaired CNS development and immunodeficiency of double KO miceVincent Abramowski, Olivier Etienne, Ramy Elsaid, et al.
The European Respiratory Journal|March 7, 2020
First heterozygous <i>NOP10</i> mutation in familial pulmonary fibrosisCaroline Kannengiesser, Effrosyni D Manali, Patrick Revy, et al.
Cell|January 28, 2006
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephalyDietke Buck, Laurent Malivert, Régina de Chasseval, et al.
Respiratory Research|August 15, 2019
Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaisonSpyros A Papiris, Panagiotis Tsirigotis, Caroline Kannengiesser, et al.
Human Molecular Genetics|April 4, 2017
Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shorteningJaime Carrillo, Oriol Calvete, Laura Pintado-Berninches, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|March 2, 2024
DCLRE1B/Apollo germline mutations associated with renal cell carcinoma impair telomere protectionCharlie Bories, Thomas Lejour, Florine Adolphe, et al.
Human Molecular Genetics|April 18, 2013
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instabilityTangui Le Guen, Laurent Jullien, Fabien Touzot, et al.
EMBO Molecular Medicine|July 6, 2019
Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out modelsManame Benyelles, Harikleia Episkopou, Marie-Françoise O'Donohue, et al.
The European Respiratory Journal|May 30, 2015
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosisCaroline Kannengiesser, Raphael Borie, Christelle Ménard, et al.
Pageof 10

Showing results (51-60 of 94) with videos related to

Sort By:
Pageof 10
Journal of Human Immunity|May 8, 2026
Ribosomal RNA processing impairments in a B cell immunodeficient patient with WDR75 variantsNidia Moreno-Corona, Alice Valagussa, Lucie Poggi, et al.
Cell Death and Differentiation|October 28, 2017
PAXX and Xlf interplay revealed by impaired CNS development and immunodeficiency of double KO miceVincent Abramowski, Olivier Etienne, Ramy Elsaid, et al.
The European Respiratory Journal|March 7, 2020
First heterozygous <i>NOP10</i> mutation in familial pulmonary fibrosisCaroline Kannengiesser, Effrosyni D Manali, Patrick Revy, et al.
Cell|January 28, 2006
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephalyDietke Buck, Laurent Malivert, Régina de Chasseval, et al.
Respiratory Research|August 15, 2019
Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaisonSpyros A Papiris, Panagiotis Tsirigotis, Caroline Kannengiesser, et al.
Human Molecular Genetics|April 4, 2017
Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shorteningJaime Carrillo, Oriol Calvete, Laura Pintado-Berninches, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|March 2, 2024
DCLRE1B/Apollo germline mutations associated with renal cell carcinoma impair telomere protectionCharlie Bories, Thomas Lejour, Florine Adolphe, et al.
Human Molecular Genetics|April 18, 2013
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instabilityTangui Le Guen, Laurent Jullien, Fabien Touzot, et al.
EMBO Molecular Medicine|July 6, 2019
Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out modelsManame Benyelles, Harikleia Episkopou, Marie-Françoise O'Donohue, et al.
The European Respiratory Journal|May 30, 2015
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosisCaroline Kannengiesser, Raphael Borie, Christelle Ménard, et al.
Pageof 10