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The conserved transcriptional regulator CdnL is required for metabolic homeostasis and morphogenesis in Caulobacter Woldemeskel, Selamawit Abi; Daitch, Allison K; Alvarez, Laura; Panis, Gaël; ... Goley, Erin D 2020
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Integrative and quantitative view of the CtrA regulatory network in a stalked budding bacterium Leicht, Oliver; van Teeseling, Muriel C F; Panis, Gaël; Reif, Celine; ... Thanbichler, Martin 2020
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UVR8-mediated inhibition of shade avoidance involves HFR1 stabilization in Arabidopsis Tavridou, Eleni; Schmid-Siegert, Emanuel; Fankhauser, Christian; Ulm, Roman 2020
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LARS2-Perrault syndrome: a new case report and literature review Carminho Amaro Rodrigues, Maria Teresa; Klee, Philippe; Laurent, Sacha; Guipponi, Michel; ... Giacobino, Ariane 2020
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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects Zhao, Yingjie; Diacou, Alexander; Johnston, H Richard; Musfee, Fadi I; ... Morrow, Bernice E 2020
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Protection against XY gonadal sex reversal by a variant region on mouse chromosome 13 Livermore, Catherine; Simon, Michelle; Reeves, Richard; Stevant, Isabelle; ... Greenfield, Andy 2020
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The DEAD-box RNA helicase CshA is required for fatty acid homeostasis in Staphylococcus aureus Khemici, Vanessa; Prados, Julien; Petrignani, Bianca; Di Nolfi, Benjamin; ... Linder, Patrick 2020
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Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency Ansar, Muhammad; Ranza, Emmanuelle Nathalie; Shetty, Madhur; Paracha, Sohail A; ... Antonarakis, Stylianos 2020
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De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy Humbert, Jonathan; Salian, Smrithi; Makrythanasis, Periklis; Lemire, Gabrielle; ... Campeau, Philippe M 2020
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Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice Coutton, Charles; Martinez, Guillaume; Kherraf, Zine-Eddine; Amiri-Yekta, Amir; ... Ray, Pierre F 2019
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Genetic Control of Gonadal Sex Determination and Development Stevant, Isabelle; Nef, Serge 2019
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Humans and Chimpanzees Display Opposite Patterns of Diversity in Arylamine N-Acetyltransferase Genes Vangenot, Christelle; Gagneux, Pascal; de Groot, Natasja G.; Baumeyer, Adrian; ... Poloni, Estella S. 2019
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Genetic screens reveal novel major and minor players in magnesium homeostasis of Staphylococcus aureus Trachsel, Emilie; Redder, Peter; Linder, Patrick; Armitano, Joshua 2019
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Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome McElreavey, Ken; Jorgensen, Anne; Eozenou, Caroline; Merel, Tiphanie; ... Bashamboo, Anu 2019
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Identification of an endoglin variant associated with HCV-related liver fibrosis progression by next-generation sequencing About, Frédégonde; Bibert, Stéphanie; Jouanguy, Emmanuelle; Nalpas, Bertrand; ... Abel, Laurent 2019
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Chromatin topology in development and disease Bompadre, Olimpia; Andrey, Guillaume 2019
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Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes Miguel-Escalada, Irene; Bonàs-Guarch, Silvia; Cebola, Inês; Ponsa-Cobas, Joan; ... Ferrer, Jorge 2019
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Combined linkage and association analysis identifies rare and low frequency variants for blood pressure at 1q31 Wang, Heming; Nandakumar, Priyanka; Tekola-Ayele, Fasil; Tayo, Bamidele O; ... Zhu, Xiaofeng 2019
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Polyamine uptake transporter 2 (put2) and decaying seeds enhance phyA-mediated germination by overcoming PIF1 repression of germination Kim, Woohyun; Zeljković, Sanja Ćavar; Piskurewicz, Urszula; Megies, Christian; ... Lopez Molina, Luis 2019
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A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure Sung, Yun Ju; de Las Fuentes, Lisa; Winkler, Thomas W; Chasman, Daniel I; ... Morrison, Alanna C 2019
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