Novel Mutation in a Patient with Cholesterol Ester Storage Disease

Por Lin, Patrick, Raikar, Sheela, Jimenez, Jennifer, Conard, Katrina, Furuya, Katryn N.
Publicado no Case Rep Genet (2015)

Diffuse Adenomatosis and Hepatocellular Carcinoma Treated with Liver Transplantation in an Adolescent Female with Kabuki Syndrome with a Novel KMT2D Gene Mutation

Por Timothy, Leander D., Lehrke, Heidi D., Chandan, Vishal S., Kolbe, Amy B., Furuya, Katryn N.
Publicado no Case Rep Pediatr (2019)

Mesenchymal Hamartoma in Children: A Diagnostic Challenge

Por Khan, Muhammad Rehan, Binkovitz, Larry A., Smyrk, Thomas C., Potter, D. Dean, Furuya, Katryn N.
Publicado no Case Rep Pediatr (2019)

The SPLIT Research Agenda 2013

Por Alonso, Estella M., Ng, Vicky L., Anand, Ravinder, Anderson, Christopher D., Ekong, Udeme D., Fredericks, Emily M., Furuya, Katryn N., Gupta, Nitika A., Lerret, Stacee, Sundaram, Shikha, Tiao, Greg
Publicado em 2013

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

Por Williams, Katie B, Brigatti, Karlla W, Puffenberger, Erik G, Gonzaga-Jauregui, Claudia, Griffin, Laurie B, Martinez, Erick D, Wenger, Olivia K, Yoder, Mark A, Kandula, Vinay V R, Fox, Michael D, Demczko, Matthew M, Poskitt, Laura, Furuya, Katryn N, Reid, Jeffrey G, Overton, John D, Baras, Aris, Miles, Lili, Radhakrishnan, Kadakkal, Carson, Vincent J, Antonellis, Anthony, Jinks, Robert N, Strauss, Kevin A
Publicado no Hum Mol Genet (2019)

Gamma Glutamyltransferase Reduction Is Associated With Favorable Outcomes in Pediatric Primary Sclerosing Cholangitis

Por Deneau, Mark R., Mack, Cara, Abdou, Reham, Amin, Mansi, Amir, Achiya, Auth, Marcus, Bazerbachi, Fateh, Marie Broderick, Anne, Chan, Albert, DiGuglielmo, Matthew, El‐Matary, Wael, El‐Youssef, Mounif, Ferrari, Federica, Furuya, Katryn N., Gottrand, Frederic, Gupta, Nitika, Homan, Matjaž, Jensen, M.K., Kamath, Binita M., Mo Kim, Kyung, Kolho, Kaija‐Leena, Konidari, Anastasia, Koot, Bart, Iorio, Raffaele, Martinez, Mercedes, Mohan, Parvathi, Palle, Sirish, Papadopoulou, Alexandra, Ricciuto, Amanda, Saubermann, Lawrence, Sathya, Pushpa, Shteyer, Eyal, Smolka, Vratislav, Tanaka, Atsushi, Valentino, Pamela L., Varier, Raghu, Venkat, Veena, Vitola, Bernadette, Vos, Miriam B., Woynarowski, Marek, Yap, Jason, Miloh, Tamir
Publicado no Hepatol Commun (2018)