Результаты поиска - Zori, Roberto T

A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1 по Reis, Linda M, Tyler, Rebecca C, Zori, Roberto, Burgesst, Jennifer, Mueller, Jennifer, Semina, Elena V

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Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology? по Topiol, Emmanuelle S, Minarich, Laurie A, Williams, Charles A, Zori, Roberto T, Kays, David W, Haller, Michael J

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Usp7 protects genomic stability by regulating Bub3 по Giovinazzi, Serena, Sirleto, Pietro, Aksenova, Vasilisa, Morozov, Viacheslav M., Zori, Roberto, Reinhold, William C., Ishov, Alexander M.

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Fine Mapping of Chromosome 17 Translocation Breakpoints ⩾900 Kb Upstream of SOX9 in Acampomelic Campomelic Dysplasia and a Mild, Familial Skeletal Dysplasia по Hill-Harfe, Katherine L., Kaplan, Lee, Stalker, Heather J., Zori, Roberto T., Pop, Ramona, Scherer, Gerd, Wallace, Margaret R.

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A benefit-risk analysis of pegvaliase for the treatment of phenylketonuria: A study of patients' preferences по Sri Bhashyam, Sumitra, Marsh, Kevin, Quartel, Adrian, Weng, Haoling H., Gershman, Ari, Longo, Nicola, Thomas, Janet, Zori, Roberto

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Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria по Zori, Roberto, Ahring, Kirsten, Burton, Barbara, Pastores, Gregory M., Rutsch, Frank, Jha, Ashok, Jurecki, Elaina, Rowell, Richard, Harding, Cary

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Chromosome painting in the manatee supports Afrotheria and Paenungulata по Kellogg, Margaret E, Burkett, Sandra, Dennis, Thomas R, Stone, Gary, Gray, Brian A, McGuire, Peter M, Zori, Roberto T, Stanyon, Roscoe

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Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem по Zeile, William L, McCune, Helen C, Musson, Donald G, O'Donnell, Brian, O'Neill, Charles A, Tsuruda, Laurie S, Zori, Roberto T, Laipis, Philip J

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Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study по Longo, Nicola, Zori, Roberto, Wasserstein, Melissa P., Vockley, Jerry, Burton, Barbara K., Decker, Celeste, Li, Mingjin, Lau, Kelly, Jiang, Joy, Larimore, Kevin, Thomas, Janet A.

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A pathogenic role for germline PTEN variants which accumulate into the nucleus по Mingo, Janire, Rodríguez-Escudero, Isabel, Luna, Sandra, Fernández-Acero, Teresa, Amo, Laura, Jonasson, Amy R., Zori, Roberto T., López, José I., Molina, María, Cid, Víctor J., Pulido, Rafael

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TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome по Milunsky, Jeff M., Maher, Tom A., Zhao, Geping, Roberts, Amy E., Stalker, Heather J., Zori, Roberto T., Burch, Michelle N., Clemens, Michele, Mulliken, John B., Smith, Rosemarie, Lin, Angela E.

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TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome по Milunsky, Jeff M., Maher, Tom A., Zhao, Geping, Roberts, Amy E., Stalker, Heather J., Zori, Roberto T., Burch, Michelle N., Clemens, Michele, Mulliken, John B., Smith, Rosemarie, Lin, Angela E.

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Chromosome 8p23.1 Deletions as a Cause of Complex Congenital Heart Defects and Diaphragmatic Hernia по 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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Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency по Diaz, George A., Schulze, Andreas, McNutt, Markey C., Leão‐Teles, Elisa, Merritt, J. Lawrence, Enns, Gregory M., Batzios, Spyros, Bannick, Allison, Zori, Roberto T., Sloan, Leslie S., Potts, Susan L., Bubb, Gillian, Quinn, Anthony G.

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Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria по Qi, Yulan, Patel, Gina, Henshaw, Joshua, Gupta, Soumi, Olbertz, Joy, Larimore, Kevin, Harding, Cary O., Merilainen, Markus, Zori, Roberto, Longo, Nicola, Burton, Barbara K., Li, Mingjin, Gu, Zhonghua, Zoog, Stephen J., Weng, Haoling H., Schweighardt, Becky

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Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria по Longo, Nicola, Dimmock, David, Levy, Harvey, Viau, Krista, Bausell, Heather, Bilder, Deborah A., Burton, Barbara, Gross, Christel, Northrup, Hope, Rohr, Fran, Sacharow, Stephanie, Sanchez-Valle, Amarilis, Stuy, Mary, Thomas, Janet, Vockley, Jerry, Zori, Roberto, Harding, Cary O.

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Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders по Longo, Nicola, Diaz, George A., Lichter-Konecki, Uta, Schulze, Andreas, Inbar-Feigenberg, Michal, Conway, Robert L., Bannick, Allison A., McCandless, Shawn E., Zori, Roberto, Hainline, Bryan, Mew, Nicholas Ah, Canavan, Colleen, Vescio, Thomas, Kok, Teresa, Porter, Marty H., Berry, Susan A.

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Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development по Baxter, Ruth M., Arboleda, Valerie A., Lee, Hane, Barseghyan, Hayk, Adam, Margaret P., Fechner, Patricia Y., Bargman, Renee, Keegan, Catherine, Travers, Sharon, Schelley, Susan, Hudgins, Louanne, Mathew, Revi P., Stalker, Heather J., Zori, Roberto, Gordon, Ora K., Ramos-Platt, Leigh, Pawlikowska-Haddal, Anna, Eskin, Ascia, Nelson, Stanley F., Délot, Emmanuèle, Vilain, Eric

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Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content по Woldegebriel, Rosa, Kvist, Jouni, Andersson, Noora, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H, Bijlsma, Emilia K, Hoffer, Mariëtte J V, Ryan, Monique M, Stark, Zornitza, Walsh, Maie, Cuppen, Inge, van den Boogaard, Marie-Jose´ H, Bharucha-Goebel, Diana, Donkervoort, Sandra, Winchester, Sara, Zori, Roberto, Bönnemann, Carsten G, Maroofian, Reza, O’Connor, Emer, Houlden, Henry, Zhao, Fang, Carpén, Olli, White, Matthew, Sreedharan, Jemeen, Stewart, Murray, Ylikallio, Emil, Tyynismaa, Henna

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AMMONIA CONTROL AND NEUROCOGNITIVE OUTCOME AMONG UREA CYCLE DISORDER PATIENTS TREATED WITH GLYCEROL PHENYLBUTYRATE по Diaz, George A., Krivitzky, Lauren S., Mokhtarani, Masoud, Rhead, William, Bartley, James, Feigenbaum, Annette, Longo, Nicola, Berquist, William, Berry, Susan A., Gallagher, Renata, Lichter-Konecki, Uta, Bartholomew, Dennis, Harding, Cary O., Cederbaum, Stephen, McCandless, Shawn E., Smith, Wendy, Vockley, Gerald, Bart, Stephen A., Korson, Mark S., Kronn, David, Zori, Roberto, Merritt, J. Lawrence, Sreenath-Nagamani, Sandesh, Mauney, Joseph, LeMons, Cynthia, Dickinson, Klara, Moors, Tristen L., Coakley, Dion F., Scharschmidt, Bruce F., Lee, Brendan

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