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Patrick Revy

Showing results (61-70 of 94) with videos related to

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Human Mutation|November 1, 2012
Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutationsHouda Mokrani-Benhelli, Laetitia Gaillard, Patricia Biasutto, 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.
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.
The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation|January 24, 2015
Severe hematologic complications after lung transplantation in patients with telomerase complex mutationsRaphael Borie, Caroline Kannengiesser, Sandrine Hirschi, 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.
Leukemia & Lymphoma|November 23, 2022
First clinical description of a pedigree with complete <i>NAF1</i> deletionJean Galtier, Sophie Dimicoli-Salazar, Aurélien Trimouille, et al.
Blood Advances|January 4, 2018
Extended clinical and genetic spectrum associated with biallelic <i>RTEL1</i> mutationsFabien Touzot, Laetitia Kermasson, Laurent Jullien, et al.
Immunity|September 21, 2022
Human anti-smallpox long-lived memory B cells are defined by dynamic interactions in the splenic niche and long-lasting germinal center imprintingPascal Chappert, François Huetz, Marie-Alix Espinasse, et al.
Cancer Research|August 3, 2021
Unraveling Ewing Sarcoma Tumorigenesis Originating from Patient-Derived Mesenchymal Stem CellsAnna Sole, Sandrine Grossetête, Maxime Heintzé, et al.
The Journal of Allergy and Clinical Immunology|June 4, 2013
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiencyHaifa H Jabara, Toshiro Ohsumi, Janet Chou, et al.
Pageof 10

Showing results (61-70 of 94) with videos related to

Sort By:
Pageof 10
Human Mutation|November 1, 2012
Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutationsHouda Mokrani-Benhelli, Laetitia Gaillard, Patricia Biasutto, 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.
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.
The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation|January 24, 2015
Severe hematologic complications after lung transplantation in patients with telomerase complex mutationsRaphael Borie, Caroline Kannengiesser, Sandrine Hirschi, 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.
Leukemia & Lymphoma|November 23, 2022
First clinical description of a pedigree with complete <i>NAF1</i> deletionJean Galtier, Sophie Dimicoli-Salazar, Aurélien Trimouille, et al.
Blood Advances|January 4, 2018
Extended clinical and genetic spectrum associated with biallelic <i>RTEL1</i> mutationsFabien Touzot, Laetitia Kermasson, Laurent Jullien, et al.
Immunity|September 21, 2022
Human anti-smallpox long-lived memory B cells are defined by dynamic interactions in the splenic niche and long-lasting germinal center imprintingPascal Chappert, François Huetz, Marie-Alix Espinasse, et al.
Cancer Research|August 3, 2021
Unraveling Ewing Sarcoma Tumorigenesis Originating from Patient-Derived Mesenchymal Stem CellsAnna Sole, Sandrine Grossetête, Maxime Heintzé, et al.
The Journal of Allergy and Clinical Immunology|June 4, 2013
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiencyHaifa H Jabara, Toshiro Ohsumi, Janet Chou, et al.
Pageof 10