Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization

by Monica Penon‐Portmann, Stephanie Lotz‐Esquivel, Alejandra Chavez Carrera, Mildred Jiménez‐Hernández, Danny Alvarado‐Romero, Sharon Segura‐Cordero, Fiorella Rimolo‐Donadio, Francisco Hevia‐Urrutia, Alfredo Mora‐Guevara, Manuel Saborío‐Rocafort, Gabriela Jiménez‐Arguedas, Ramsés Badilla‐Porras
Published 2020-03-01

Application of full-genome analysis to diagnose rare monogenic disorders

by Joseph T. Shieh, Monica Penon-Portmann, Karen H. Y. Wong, Michal Levy-Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David Martin, Pui-Yan Kwok, Dario Boffelli
Published 2021-09-01