Rezultati pretrage - Shchelochkov, Oleg A

Insights into the Pathogenesis and Treatment of Cancer from Inborn Errors of Metabolism od Erez, Ayelet, Shchelochkov, Oleg A., Plon, Sharon E., Scaglia, Fernando, Lee, Brendan

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

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Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia od Panzer, Karin, Ekhaguere, Osayame A., Darbro, Benjamin, Cook, Jennifer, Shchelochkov, Oleg A.

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Response to Cunningham et al od Manoli, Irini, Myles, Jennifer G., Sloan, Jennifer L., Shchelochkov, Oleg A., Venditti, Charles P.

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Clinical and Environmental Influences on Metabolic Biomarkers Collected for Newborn Screening od Ryckman, Kelli K., Berberich, Stanton L., Shchelochkov, Oleg A., Cook, Daniel E, Murray, Jeffrey C.

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Genetic associations with neonatal thyroid stimulating hormone levels od Alul, Farah Y., Shchelochkov, Oleg A., Berberich, Stanton L., Murray, Jeffrey C., Ryckman, Kelli K.

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Barriers to drug adherence in the treatment of urea cycle disorders: Assessment of patient, caregiver and provider perspectives od Shchelochkov, Oleg A., Dickinson, Klara, Scharschmidt, Bruce F., Lee, Brendan, Marino, Miguel, Le Mons, Cynthia

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Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B od Shaibani, Aziz, Shchelochkov, Oleg A., Zhang, Shulin, Katsonis, Panagiotis, Lichtarge, Olivier, Wong, Lee-Jun, Shinawi, Marwan

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Ornithine Transcarbamylase Deficiency: A Possible Risk Factor for Thrombosis od Venkateswaran, Lakshmi, Scaglia, Fernando, McLin, Valerie, Hertel, Paula, Shchelochkov, Oleg A., Karpen, Saul, Mahoney, Donald, Yee, Donald L.

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The influence of maternal disease on metabolites measured as part of newborn screening od Ryckman, Kelli K, Shchelochkov, Oleg A, Cook, Daniel E, Berberich, Stanton L., Copeland, Sara, Dagle, John M, Murray, Jeffrey C

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Association of Amino Acids with Common Complications of Prematurity od Ryckman, Kelli K, Dagle, John M, Shchelochkov, Oleg A, Ehinger, Noah, Poole, Stanley D., Berberich, Stanton L., Reese, Jeff, Murray, Jeffrey C

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Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement od Shchelochkov, Oleg A, Cooper, M Lance, Ou, Zhishuo, Peacock, Sandra, Yatsenko, Svetlana A, Brown, Chester W, Fang, Ping, Stankiewicz, Pawel, Cheung, Sau Wai

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Desmosterolosis—Phenotypic and Molecular Characterization of a Third Case and Review of the Literature od Schaaf, Christian P., Koster, Janet, Katsonis, Panagiotis, Kratz, Lisa, Shchelochkov, Oleg A., Scaglia, Fernando, Kelley, Richard I., Lichtarge, Olivier, Waterham, Hans R., Shinawi, Marwan

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Replication of clinical associations with 17-hydroxyprogesterone in preterm newborns od Ryckman, Kelli K, Cook, Daniel E, Berberich, Stanton L., Shchelochkov, Oleg A, Copeland, Sara, Berends, Susan K, Busch, Tamara, Dagle, John M, Murray, Jeffrey C

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Molecular characterization of CPS1 deletions by array CGH od Wang, Jing, Shchelochkov, Oleg A., Zhan, Hongli, Li, Fangyuan, Chen, Li-Chieh, Brundage, Ellen K., Pursley, Amber N., Schmitt, Eric S., Häberle, Johannes, Wong, Lee-Jun C.

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A Randomized Controlled Trial to Evaluate the Effects of High-Dose versus Low-Dose of Arginine Therapy on Hepatic Function Tests in Argininosuccinic Aciduria od Nagamani, Sandesh CS, Shchelochkov, Oleg A, Mullins, Mary A, Carter, Susan, Lanpher, Brendan C., Sun, Qin, Kleppe, Soledad, Erez, Ayelet, Smith, E O’Brian, Marini, Juan, Lee, Brendan

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Chromosome 8p23.1 Deletions as a Cause of Complex Congenital Heart Defects and Diaphragmatic Hernia od Wat, Margaret J., Shchelochkov, Oleg A., Holder, Ashley M., Breman, Amy M., Dagli, Aditi, Bacino, Carlos, Scaglia, Fernando, Zori, Roberto T., Cheung, Sau Wai, Scott, Daryl A., Kang, Sung-Hae Lee

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Molecular Defects in Human Carbamoyl Phosphate Synthetase I: Mutational Spectrum, Diagnostic and Protein Structure Considerations od Häberle, Johannes, Shchelochkov, Oleg A., Wang, Jing, Katsonis, Panagiotis, Hall, Lynn, Reiss, Sara, Eeds, Angela, Willis, Alecia, Yadav, Meeta, Summar, Samantha, Lichtarge, Olivier, Rubio, Vicente, Wong, Lee-Jun, Summar, Marshall

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Novel Frem1-Related Mouse Phenotypes and Evidence of Genetic Interactions with Gata4 and Slit3 od Beck, Tyler F., Shchelochkov, Oleg A., Yu, Zhiyin, Kim, Bum Jun, Hernández-García, Andrés, Zaveri, Hitisha P., Bishop, Colin, Overbeek, Paul A., Stockton, David W., Justice, Monica J., Scott, Daryl A.

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An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions od Kim, Bum Jun, Zaveri, Hitisha P., Shchelochkov, Oleg A., Yu, Zhiyin, Hernández-García, Andrés, Seymour, Michelle L., Oghalai, John S., Pereira, Fred A., Stockton, David W., Justice, Monica J., Lee, Brendan, Scott, Daryl A.

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