Resultats de la cerca - Demirbas, Didem
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A Yeast-Based Chemical Screen Identifies a PDE Inhibitor That Elevates Steroidogenesis in Mouse Leydig Cells via PDE8 and PDE4 Inhibition per Demirbas, Didem, Wyman, Arlene R., Shimizu-Albergine, Masami, Cakici, Ozgur, Beavo, Joseph A., Hoffman, Charles S.
Publicat 2013Text -
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[(13)C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis per Ficicioglu, Can, Demirbas, Didem, Derks, Britt, Pai, G. Shashidhar, Timson, David J., Rubio‐Gozalbo, Maria Estela, Berry, Gerard T.
Publicat 2021Text -
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Use of a Schizosaccharomyces pombe PKA-repressible reporter to study cGMP metabolising phosphodiesterases per Demirbas, Didem, Ceyhan, Ozge, Wyman, Arlene R., Ivey, F. Douglas, Allain, Christina, Wang, Lili, Sharuk, Maia N., Francis, Sharron H., Hoffman, Charles S.
Publicat 2010Text -
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5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination per Rodan, Lance H., Qi, Wanshu, Ducker, Gregory S., Demirbas, Didem, Laine, Regina, Yang, Edward, Walker, Melissa A., Eichler, Florian, Rabinowitz, Joshua D., Anselm, Irina, Berry, Gerard T.
Publicat 2018Text -
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Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase per Demirbas, Didem, Harris, David J., Arn, Pamela H., Huang, Xiaoping, Waisbren, Susan E., Anselm, Irina, Lerner‐Ellis, Jordan P., Wong, Lee‐Jun, Levy, Harvey L., Berry, Gerard T.
Publicat 2019Text -
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Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion per Huang, Xiaoping, Bedoyan, Jirair K., Demirbas, Didem, Harris, David J., Miron, Alexander, Edelheit, Simone, Grahame, George, DeBrosse, Suzanne D., Wong, Lee-Jun, Hoppel, Charles L., Kerr, Douglas S., Anselm, Irina, Berry, Gerard T.
Publicat 2016Text -
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A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency per Bedoyan, Jirair K., Hecht, Leah, Zhang, Shulin, Tarrant, Stacey, Bergin, Ann, Demirbas, Didem, Yang, Edward, Shin, Ha Kyung, Grahame, George J., DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Berry, Gerard T.
Publicat 2019Text -
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The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation per Berry, Gerard T., Blume, Elizabeth D., Wessel, Ann, Singh, Tajinder, Hecht, Leah, Marsden, Deborah, Sahai, Inderneel, Elisofon, Scott, Ferguson, Michael, Kim, Heung Bae, Harris, David J., Demirbas, Didem, Almuqbil, Mohammed, Nyhan, William L.
Publicat 2020Text -
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KCNQ1, KCNE2, and Na(+)-Coupled Solute Transporters Form Reciprocally Regulating Complexes that Affect Neuronal Excitability per Abbott, Geoffrey W., Tai, Kwok-Keung, Neverisky, Daniel, Hansler, Alex, Hu, Zhaoyang, Roepke, Torsten K., Lerner, Daniel J., Chen, Qiuying, Liu, Li, Zupan, Bojana, Toth, Miklos, Haynes, Robin, Huang, Xiaoping, Demirbas, Didem, Buccafusca, Roberto, Gross, Steven S., Kanda, Vikram A., Berry, Gerard T.
Publicat 2014Text -
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Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia per Haskovic, Minela, Derks, Britt, van der Ploeg, Liesbeth, Trommelen, Jorn, Nyakayiru, Jean, van Loon, Luc J. C., Mackinnon, Sabrina, Yue, Wyatt W., Peake, Roy W. A., Zha, Li, Demirbas, Didem, Qi, Wanshu, Huang, Xiaoping, Berry, Gerard T., Achten, Jelle, Bierau, Jörgen, Rubio-Gozalbo, M. Estela, Coelho, Ana I.
Publicat 2018Text -
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Galactokinase deficiency: lessons from the GalNet registry per Rubio-Gozalbo, M. Estela, Derks, Britt, Das, Anibh Martin, Meyer, Uta, Möslinger, Dorothea, Couce, M. Luz, Empain, Aurélie, Ficicioglu, Can, Juliá Palacios, Natalia, De Los Santos De Pelegrin, Mariela M., Rivera, Isabel A., Scholl-Bürgi, Sabine, Bosch, Annet M., Cassiman, David, Demirbas, Didem, Gautschi, Matthias, Knerr, Ina, Labrune, Philippe, Skouma, Anastasia, Verloo, Patrick, Wortmann, Saskia B., Treacy, Eileen P., Timson, David J., Berry, Gerard T.
Publicat 2020Text -
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A comparison of non-integrating reprogramming methods per Schlaeger, Thorsten M, Daheron, Laurence, Brickler, Thomas R, Entwisle, Samuel, Chan, Karrie, Cianci, Amelia, DeVine, Alexander, Ettenger, Andrew, Fitzgerald, Kelly, Godfrey, Michelle, Gupta, Dipti, McPherson, Jade, Malwadkar, Prerana, Gupta, Manav, Bell, Blair, Doi, Akiko, Jung, Namyoung, Li, Xin, Lynes, Maureen S, Brookes, Emily, Cherry, Anne B C, Demirbas, Didem, Tsankov, Alexander M, Zon, Leonard I, Rubin, Lee L, Feinberg, Andrew P, Meissner, Alexander, Cowan, Chad A, Daley, George Q
Publicat 2014Text