Search Results - Zori, Roberto T.

A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1 by 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? by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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 by 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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