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APOE2, E3, and E4 differentially modulate cellular homeostasis, cholesterol metabolism, and inflammatory response in isogenic iPSC-derived astrocytes de Leeuw, Sherida M; Kirschner, Aron W T; Lindner, Karina; Rust, Ruslan; ... Tackenberg, Christian 2022
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Analysis of biological models to predict clinical outcomes based on HLA-DPB1 disparities in unrelated transplantation Buhler, Stéphane; Baldomero, Helen; Ferrari-Lacraz, Sylvie; Mamez, Anne-Claire; ... Villard, Jean 2021
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Characterization of the novel HLA-B*15:514 allele in a French hematopoietic stem cell donor Dard, Céline; Senoussi, Ornella; Buhler, Stéphane; Bardy, Béatrice; Masson, Dominique 2021
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Determinants of mesial temporal lobe volume loss in older individuals with preserved cognition: a longitudinal PET amyloid study Montandon Zaidi, Marie-Louise; Herrmann, François; Garibotto, Valentina; Rodriguez, Cristelle; ... Giannakopoulos, Panteleimon 2020
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Expression estimation and eQTL mapping for HLA genes with a personalized pipeline Aguiar, Vitor; César, Jônatas; Delaneau, Olivier; Dermitzakis, Emmanouil; Meyer, Diogo 2019
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RINT1 Bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities Cousin, Margot A; Conboy, Erin; Wang, Jian-She; Lenz, Dominic; ... Klee, Eric W 2019
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Clinical and biological features of PTPN2-deleted adult and pediatric T-cell acute lymphoblastic leukemia Alcantara, Marion; Simonin, Mathieu; Lhermitte, Ludovic; Touzart, Aurore; ... Asnafi, Vahid 2019
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Next Generation Sequencing Analysis in Early Onset Dementia Patients Bonvicini, Cristian; Scassellati, Catia; Benussi, Luisa; Di Maria, Emilio; ... Gennarelli, Massimo 2019
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Duration of preclinical, prodromal, and dementia stages of Alzheimer's disease in relation to age, sex, and APOE genotype Vermunt, Lisa; Sikkes, Sietske A M; van den Hout, Ardo; Handels, Ron; ... Visser, Pieter Jelle 2019
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A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families Fabre, Alexandre; Petit, Laëtitia Marie; Hansen, Lars F; Wewer, Anne V; ... Paerregaard, Anders 2018
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Identification of seven novel HLA class I and II alleles Ferrari-Lacraz, Sylvie; Masson, Dominique; Villard, Jean; Buhler, Stéphane 2018
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Genetic polymorphisms associated with smoking behaviour predict the risk of surgery in patients with Crohn's disease Lang, B M; Biedermann, L; van Haaften, W T; de Vallière, C; ... Misselwitz, B 2018
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Mutational epidemiology of congenital fibrinogen disorders Casini, Alessandro; Blondon, Marc; Tintillier, Veronique; Goodyer, Matthew; ... Neerman Arbez, Marguerite 2018
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Molecular characterization of Treponema pallidum subsp. pallidum in Switzerland and France with a new multilocus sequence typing scheme Grillová, Linda; Bawa, Tanika; Mikalová, Lenka; Gayet-Ageron, Angèle; ... Bosshard, Philipp P 2018
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Cas9-mediated allelic exchange repairs compound heterozygous recessive mutations in mice Wang, Dan; Li, Jia; Song, Chun-Qing; Tran, Karen; ... Gao, Guangping 2018
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Genetic effects on gene expression across human tissues GTEx Consortium 2017
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The forensic use of behavioral genetics in criminal proceedings: Case of the MAOA-L genotype McSwiggan, Sally; Elger, Bernice Simone; Appelbaum, Paul S 2017
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Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections Ogunjimi, Benson; Zhang, Shen-Ying; Sørensen, Katrine B; Fluss, Joel Victor; ... Mogensen, Trine H 2017
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Precision and prognostic value of clone-specific minimal residual disease in acute myeloid leukemia Hirsch, Pierre; Tang, Ruoping; Abermil, Nassera; Flandrin, Pascale; ... Delhommeau, François 2017
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Genetic invalidation of Lp-PLA2 as a therapeutic target: Large-scale study of five functional Lp-PLA2-lowering alleles EPIC-CVD consortium and the CHD Exome+ consortium 2017
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