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Disruption of RAB40AL function leads to Martin–Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder
Bedoyan, Jirair Krikor, Schaibley, Valerie M, Peng, Weiping, Bai, Yongsheng, Mondal, Kajari, Shetty, Amol C, Durham, Mark, Micucci, Joseph A, Dhiraaj, Arti, Skidmore, Jennifer M, Kaplan, Julie B, Skinner, Cindy, Schwartz, Charles E, Antonellis, Anthony, Zwick, Michael E, Cavalcoli, James D, Li, Jun Z, Martin, Donna M
Published in Journal of medical genetics (01.05.2012)
Published in Journal of medical genetics (01.05.2012)
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Journal Article
Genetic diversity of human RNase 8
Chan, Calvin C, Moser, Jennifer M, Dyer, Kimberly D, Percopo, Caroline M, Rosenberg, Helene F
Published in BMC genomics (24.01.2012)
Published in BMC genomics (24.01.2012)
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Journal Article
Functional Proteomic Analysis of Lipases and Esterases in Cultured Human Adipocytes
Schicher, Maximilian, Morak, Maria, Birner-Gruenberger, Ruth, Kayer, Heidemarie, Stojcic, Bojana, Rechberger, Gerald, Kollroser, Manfred, Hermetter, Albin
Published in Journal of proteome research (03.12.2010)
Published in Journal of proteome research (03.12.2010)
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Journal Article
Human Hydroxysteroid Sulfotransferase SULT2B1 Pharmacogenomics: Gene Sequence Variation and Functional Genomics
Ji, Yuan, Moon, Irene, Zlatkovic, Jelena, Salavaggione, Oreste E., Thomae, Bianca A., Eckloff, Bruce W., Wieben, Eric D., Schaid, Daniel J., Weinshilboum, Richard M.
Published in The Journal of pharmacology and experimental therapeutics (01.08.2007)
Published in The Journal of pharmacology and experimental therapeutics (01.08.2007)
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Journal Article
Plekhg4 Is a Novel Dbl Family Guanine Nucleotide Exchange Factor Protein for Rho Family GTPases
Gupta, Meghana, Kamynina, Elena, Morley, Samantha, Chung, Stacey, Muakkassa, Nora, Wang, Hong, Brathwaite, Shayna, Sharma, Gaurav, Manor, Danny
Published in The Journal of biological chemistry (17.05.2013)
Published in The Journal of biological chemistry (17.05.2013)
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Journal Article
FUNCTIONAL CHARACTERIZATION OF FIVE NOVEL CYP2C8 VARIANTS, G171S, R186X, R186G, K247R, AND K383N, FOUND IN A JAPANESE POPULATION
Hichiya, Hiroyuki, Tanaka-Kagawa, Toshiko, Soyama, Akiko, Jinno, Hideto, Koyano, Satoru, Katori, Noriko, Matsushima, Erika, Uchiyama, Shigehisa, Tokunaga, Hiroshi, Kimura, Hideo, Minami, Narihiro, Katoh, Masaaki, Sugai, Kenji, Goto, Yu-ichi, Tamura, Tomohide, Yamamoto, Noboru, Ohe, Yuichiro, Kunitoh, Hideo, Nokihara, Hiroshi, Yoshida, Teruhiko, Minami, Hironobu, Saijo, Nagahiro, Ando, Masanori, Ozawa, Shogo, Saito, Yoshiro, Sawada, Jun-ichi
Published in Drug metabolism and disposition (01.05.2005)
Published in Drug metabolism and disposition (01.05.2005)
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Journal Article
Versatile co-expression of graft-protective proteins using 2A-linked cassettes
Fisicaro, Nella, Londrigan, Sarah L., Brady, Jamie L., Salvaris, Evelyn, Nottle, Mark B., O'Connell, Philip J., Robson, Simon C., d'Apice, Anthony J. F., Lew, Andrew M., Cowan, Peter J.
Published in Xenotransplantation (Københaven) (01.03.2011)
Published in Xenotransplantation (Københaven) (01.03.2011)
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Journal Article
Generation of temperature-sensitive human metapneumovirus strains that provide protective immunity in hamsters
Herfst, Sander, de Graaf, Miranda, Schrauwen, Eefje J. A, Sprong, Leo, Hussain, Karim, van den Hoogen, Bernadette G, Osterhaus, Albert D. M. E, Fouchier, Ron A. M
Published in Journal of general virology (01.07.2008)
Published in Journal of general virology (01.07.2008)
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Journal Article
Haplotypes and a Novel Defective Allele of CES2 Found in a Japanese Population
Kim, Su-Ryang, Sai, Kimie, Tanaka-Kagawa, Toshiko, Jinno, Hideto, Ozawa, Shogo, Kaniwa, Nahoko, Saito, Yoshiro, Akasawa, Akira, Matsumoto, Kenji, Saito, Hirohisa, Kamatani, Naoyuki, Shirao, Kuniaki, Yamamoto, Noboru, Yoshida, Teruhiko, Minami, Hironobu, Ohtsu, Atsushi, Saijo, Nagahiro, Sawada, Jun-ichi
Published in Drug metabolism and disposition (01.10.2007)
Published in Drug metabolism and disposition (01.10.2007)
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Journal Article
Protein Kinase C Phosphorylation Regulates Membrane Insertion of GABAA Receptor Subtypes That Mediate Tonic Inhibition
Abramian, Armen M., Comenencia-Ortiz, Eydith, Vithlani, Mansi, Tretter, Eva Verena, Sieghart, Werner, Davies, Paul A., Moss, Stephen J.
Published in The Journal of biological chemistry (31.12.2010)
Published in The Journal of biological chemistry (31.12.2010)
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Journal Article
Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemia
Engler, Mary B., Pullinger, Clive R., Malloy, Mary J., Natanzon, Yanina, Kulkarni, Medha V., Song, James, Eng, Celeste, Huuskonen, Jaarko, Rivera, Christopher, Poon, Annie, Bensley, Matt, Sehnert, Amy, Zellner, Christian, Kane, John, Aouizerat, Bradley E.
Published in Metabolism, clinical and experimental (01.12.2008)
Published in Metabolism, clinical and experimental (01.12.2008)
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Journal Article
Heterozygous FA2H mutations in autism spectrum disorders
Scheid, Isabelle, Maruani, Anna, Huguet, Guillaume, Leblond, Claire S, Nygren, Gudrun, Anckarsäter, Henrik, Beggiato, Anita, Rastam, Maria, Amsellem, Fréderique, Gillberg, I Carina, Elmaleh, Monique, Leboyer, Marion, Gillberg, Christopher, Betancur, Catalina, Coleman, Mary, Hama, Hiroko, Cook, Edwin H, Bourgeron, Thomas, Delorme, Richard
Published in BMC genetics (03.12.2013)
Published in BMC genetics (03.12.2013)
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Journal Article
Viral protein synthesis is required for Enterovirus 71 to induce apoptosis in human glioblastoma cells
Shih, Shin-Ru, Weng, Kuo-Feng, Stollar, Victor, Li, Mei-Ling
Published in Journal of neurovirology (01.01.2008)
Published in Journal of neurovirology (01.01.2008)
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Journal Article