Výsledky vyhledávání - Gallagher, Renata

A Promoter Region Mutation Affecting Replication of the Tetrahymena Ribosomal DNA Minichromosome Autor Gallagher, Renata C., Blackburn, Elizabeth H.

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A case of severe acidosis in a 12-month-old: Succinyl-CoA:3-ketoacid-CoA transferase deficiency with OXCT1 gene mutations Autor Dhammi, Navjot, Essakow, Jenna, Gallagher, Renata, Gaw, Cynthia

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Evidence for the Role of PWCR1/HBII-85 C/D Box Small Nucleolar RNAs in Prader-Willi Syndrome Autor Gallagher, Renata C., Pils, Birgit, Albalwi, Mohammed, Francke, Uta

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The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health Autor Woerner, Audrey C., Gallagher, Renata C., Vockley, Jerry, Adhikari, Aashish N.

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Hepatocellular carcinoma in a gene therapy research subject with ornithine transcarbamylase deficiency Autor Wilson, James M., Shchelochkov, Oleg A., Gallagher, Renata C., Batshaw, Mark L.

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Significant Hepatic Involvement in patients with Ornithine Transcarbamylase Deficiency Autor Gallagher, Renata C., Lam, Christina, Wong, Derek, Cederbaum, Stephen, Sokol, Ronald J.

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Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy Autor Stabler, Sally P., Freehauf, Cynthia, Allen, Robert H., Thomas, Janet, Gallagher, Renata

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The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1 Autor Scharer, Gunter, Brocker, Chad, Vasiliou, Vasilis, Creadon-Swindell, Geralyn, Gallagher, Renata C., Spector, Elaine, Van Hove, Johan L. K.

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Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD) Autor Laemmle, Alexander, Gallagher, Renata C., Keogh, Adrian, Stricker, Tamar, Gautschi, Matthias, Nuoffer, Jean-Marc, Baumgartner, Matthias R., Häberle, Johannes

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Cobalamin D Deficiency Identified Through Newborn Screening Autor Abu-El-Haija, Aya, Mendelsohn, Bryce A., Duncan, Jacque L., Moore, Anthony T., Glenn, Orit A., Weisiger, Kara, Gallagher, Renata C.

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Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients Autor Schwab, Marisa E., Brown, Julia E. H., Lianoglou, Billie, Jin, Chengshi, Conroy, Patricia C., Gallagher, Renata C., Harmatz, Paul, MacKenzie, Tippi C.

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Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace... Autor Adhikari, Aashish N., Currier, Robert J., Tang, Hao, Turgeon, Coleman T., Nussbaum, Robert L., Srinivasan, Rajgopal, Sunderam, Uma, Kwok, Pui-Yan, Brenner, Steven E., Gavrilov, Dimitar, Puck, Jennifer M., Gallagher, Renata

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Positive Newborn Screen for Methylmalonic Aciduria Identifies the First Mutation in TCblR/CD320, the Gene for Cellular Uptake of Transcobalamin-bound Vitamin B(12) Autor Quadros, Edward V., Lai, Shao-Chiang, Nakayama, Yasumi, Sequeira, Jeffrey M., Hannibal, Luciana, Wang, Sihe, Jacobsen, Donald W., Fedosov, Sergey, Wright, Erica, Gallagher, Renata C., Anastasio, Natascia, Watkins, David, Rosenblatt, David S.

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Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy Autor Van Hove, Johan L.K., Saenz, Margarita S., Thomas, Janet A., Gallagher, Renata, Lovell, Mark A., Fenton, Laura Z., Shanske, Sarah, Myers, Sommer M., Wanders, Ronald J. A., Ruiter, Jos, Turkenburg, Marjolein, Waterham, Hans R.

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Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing Autor Chatfield, Kathryn C., Coughlin, Curtis R., Friederich, Marisa W., Gallagher, Renata C., Hesselberth, Jay R., Lovell, Mark A., Ofman, Rob, Swanson, Michael A., Thomas, Janet A., Wanders, Ronald J.A., Wartchow, Eric P., Van Hove, Johan L.K.

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Opportunities and challenges for the computational interpretation of rare variation in clinically important genes Autor McInnes, Gregory, Sharo, Andrew G., Koleske, Megan L., Brown, Julia E.H., Norstad, Matthew, Adhikari, Aashish N., Wang, Sheng, Brenner, Steven E., Halpern, Jodi, Koenig, Barbara A., Magnus, David C., Gallagher, Renata C., Giacomini, Kathleen M., Altman, Russ B.

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Clinical and biochemical characterization of four patients with mutations in ECHS1 Autor Ferdinandusse, Sacha, Friederich, Marisa W., Burlina, Alberto, Ruiter, Jos P. N., Coughlin, Curtis R., Dishop, Megan K., Gallagher, Renata C., Bedoyan, Jirair K., Vaz, Frédéric M., Waterham, Hans R., Gowan, Katherine, Chatfield, Kathryn, Bloom, Kaitlyn, Bennett, Michael J., Elpeleg, Orly, Van Hove, Johan L. K., Wanders, Ronald J. A.

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Application of full-genome analysis to diagnose rare monogenic disorders Autor Shieh, Joseph T., Penon-Portmann, Monica, Wong, Karen H. Y., Levy-Sakin, Michal, Verghese, Michelle, Slavotinek, Anne, Gallagher, Renata C., Mendelsohn, Bryce A., Tenney, Jessica, Beleford, Daniah, Perry, Hazel, Chow, Stephen K., Sharo, Andrew G., Brenner, Steven E., Qi, Zhongxia, Yu, Jingwei, Klein, Ophir D., Martin, David, Kwok, Pui-Yan, Boffelli, Dario

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Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders Autor Shieh, Joseph T., Penon-Portmann, Monica, Wong, Karen H. Y., Levy-Sakin, Michal, Verghese, Michelle, Slavotinek, Anne, Gallagher, Renata C., Mendelsohn, Bryce A., Tenney, Jessica, Beleford, Daniah, Perry, Hazel, Chow, Stephen K., Sharo, Andrew G., Brenner, Steven E., Qi, Zhongxia, Yu, Jingwei, Klein, Ophir D., Martin, David, Kwok, Pui-Yan, Boffelli, Dario

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Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Conso... Autor Ah Mew, Nicholas, Cnaan, Avital, McCarter, Robert, Choi, Henry, Glass, Penny, Rice, Katie, Scavo, Louis, Gillespie, Catherine W., Diaz, George A., Berry, Gerard T., Wong, Derek, Konczal, Laura, McCandless, Shawn E., Coughlin II, Curtis R., Weisfeld-Adams, James D., Ficicioglu, Can, Yudkoff, Mark, Enns, Gregory M., Lichter-Konecki, Uta, Gallagher, Renata, Tuchman, Mendel

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