Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet

por Dagli, A. I., Zori, R. T., McCune, H., Maisenbacher, M. K., Ivsic, T., Weinstein, D. A.
Publicado 2009

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

por Lossie, A, Whitney, M, Amidon, D, Dong, H, Chen, P, Theriaque, D, Hutson, A, Nicholls, R, Zori, R, Williams, C, Driscoll, D
Publicado 2001

Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient.

por Alley, T L, Gray, B A, Lee, S H, Scherer, S W, Tsui, L C, Tint, G S, Williams, C A, Zori, R, Wallace, M R
Publicado 1995

Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.

por Migeon, B. R., Jeppesen, P., Torchia, B. S., Fu, S., Dunn, M. A., Axelman, J., Schmeckpeper, B. J., Fantes, J., Zori, R. T., Driscoll, D. J.
Publicado 1996

Urinary Phenylacetylglutamine as Dosing Biomarker for Patients with Urea Cycle Disorders

por Mokhtarani, M, Diaz, GA, Rhead, W, Lichter-Konecki, U, Bartley, J, Feigenbaum, A, Longo, N, Berquist, W, Berry, SA, Gallagher, R, Bartholomew, D, Harding, CO, Korson, MS, McCandless, SE, Smith, W, Vockley, J, Bart, S, Kronn, D, Zori, R, Cederbaum, S, Dorrani, N, Merritt, JL, Sreenath-Nagamani, Sandesh, Summar, M, LeMons, C, Dickinson, K, Coakley, DF, Moors, TL, Lee, B, Scharschmidt, BF
Publicado 2012