检索结果 - Rogers, Curtis

Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome 由 Dyar, Brianna, Meaddough, Erika, Sarasua, Sara M., Rogers, Curtis, Phelan, Katy, Boccuto, Luigi

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Phenotypic Variability in Phelan–McDermid Syndrome and Its Putative Link to Environmental Factors 由 Boccuto, Luigi, Mitz, Andrew, Abenavoli, Ludovico, Sarasua, Sara M., Bennett, William, Rogers, Curtis, DuPont, Barbara, Phelan, Katy

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Gene Expression and Functional Analyses of Odorant Receptors in Small Hive Beetles (Aethina tumida) 由 Liu, Yuanzhen, Beaurepaire, Alexis, Rogers, Curtis W., Lopez, Dawn, Evans, Jay D., Straub, Lars, Neumann, Peter, Cook, Steven C., Huang, Qiang

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Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome 由 Le Goff, Carine, Rogers, Curtis, Le Goff, Wilfried, Pinto, Graziella, Bonnet, Damien, Chrabieh, Maya, Alibeu, Olivier, Nistchke, Patrick, Munnich, Arnold, Picard, Capucine, Cormier-Daire, Valérie

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Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome 由 Srikanth, Sujata, Jain, Lavanya, Zepeda-Mendoza, Cinthya, Cascio, Lauren, Jones, Kelly, Pauly, Rini, DuPont, Barb, Rogers, Curtis, Sarasua, Sara, Phelan, Katy, Morton, Cynthia, Boccuto, Luigi

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RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A 由 Sohn, Young Bae, Rogers, Curtis, Stallworth, Jennifer, Cooley Coleman, Jessica A., Buch, Laura, Jozwiak, Erin, Johnson, Jo Ann, Wood, Tim, Harmatz, Paul, Pollard, Laura, Louie, Raymond J.

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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy 由 Cullup, Thomas, Kho, Ay L., Dionisi-Vici, Carlo, Brandmeier, Birgit, Smith, Frances, Urry, Zoe, Simpson, Michael A., Yau, Shu, Bertini, Enrico, McClelland, Verity, Al-Owain, Mohammed, Koelker, Stefan, Koerner, Christian, Hoffmann, Georg F., Wijburg, Frits A., Hoedt, Amber E. ten, Rogers, Curtis, Manchester, David, Miyata, Rie, Hayashi, Masaharu, Said, Elizabeth, Soler, Doriette, Kroisel, Peter M., Windpassinger, Christian, Filloux, Francis M., Al-Kaabi, Salwa, Hertecant, Jozef, Del Campo, Miguel, Buk, Stefan, Bodi, Istvan, Goebel, Hans-Hilmar, Sewry, Caroline A., Abbs, Stephen, Mohammed, Shehla, Josifova, Dragana, Gautel, Mathias, Jungbluth, Heinz

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