Mitochondrial dysfunction in nonalcoholic fatty liver disease and alcohol related liver disease

gan Prasun, Pankaj, Ginevic, Ilona, Oishi, Kimihiko
Cyhoeddwyd yn Transl Gastroenterol Hepatol (2021)

A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I

gan Imagawa, Eri, Diaz, George A., Oishi, Kimihiko
Cyhoeddwyd yn Mol Genet Metab Rep (2020)

Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders

gan Chapel-Crespo, Cristel C., Diaz, George A., Oishi, Kimihiko
Cyhoeddwyd yn Expert Rev Endocrinol Metab (2016)

Spacing Effect: SHP2 Phosphatase Regulates Resting Intervals Between Learning Trials in Long-Term Memory Induction

gan Pagani, Mario R., Oishi, Kimihiko, Gelb, Bruce D., Zhong, Yi
Cyhoeddwyd 2009

Liver transplantation for pediatric inherited metabolic disorders: considerations for indications, complications, perioperative management

gan Oishi, Kimihiko, Arnon, Ronen, Wasserstein, Melissa P., Diaz, George A.
Cyhoeddwyd yn Pediatr Transplant (2016)

Nutritional Management and Biochemical Outcomes during the Immediate Phase after Liver Transplant for Methylmalonic Acidemia

gan Siegel, Casey, Arnon, Ronen, Florman, Sander, Bucuvalas, John, Oishi, Kimihiko
Cyhoeddwyd yn Nutrients (2020)

Skin lesions in a patient with Cobalamin C disease in poor metabolic control

gan Prasun, Pankaj, Chapel-Crespo, Cristel, Williamson, Amy, Chu, Paul, Oishi, Kimihiko, Diaz, George
Cyhoeddwyd yn J Inherit Metab Dis (2017)

Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation

gan Schussler, Edith, Linkner, Rita V, Levitt, Jacob, Mehta, Lakshmi, Martignetti, John A, Oishi, Kimihiko
Cyhoeddwyd yn Adv Genomics Genet (2018)

Knowledge and attitudes on pharmacogenetics among pediatricians

gan Rahawi, Shahad, Naik, Hetanshi, Blake, Kathryn V., Owusu Obeng, Aniwaa, Wasserman, Rachel M., Seki, Yoshinori, Funanage, Vicky L., Oishi, Kimihiko, Scott, Stuart A.
Cyhoeddwyd yn J Hum Genet (2020)

Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development

gan Oishi, Kimihiko, Zhang, Hui, Gault, William J., Wang, Cindy J., Tan, Cheryl C., Kim, In-Kyong, Ying, Huiwen, Rahman, Tabassum, Pica, Natalie, Tartaglia, Marco, Mlodzik, Marek, Gelb, Bruce D.
Cyhoeddwyd 2009

Transcription factor Ap2δ associates with Ash2l and ALR, a trithorax family histone methyltransferase, to activate Hoxc8 transcription

gan Tan, Cheryl C., Sindhu, K. V., Li, SiDe, Nishio, Hitomi, Stoller, Jason Z., Oishi, Kimihiko, Puttreddy, Sahitya, Lee, Tamara J., Epstein, Jonathan A., Walsh, Martin J., Gelb, Bruce D.
Cyhoeddwyd 2008

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

gan Tanaka, Akemi J., Cho, Megan T., Willaert, Rebecca, Retterer, Kyle, Zarate, Yuri A., Bosanko, Katie, Stefans, Vikki, Oishi, Kimihiko, Williamson, Amy, Wilson, Golder N., Basinger, Alice, Barbaro-Dieber, Tina, Ortega, Lucia, Sorrentino, Susanna, Gabriel, Melissa K., Anderson, Ilse J., Sacoto, Maria J. Guillen, Schnur, Rhonda E., Chung, Wendy K.
Cyhoeddwyd yn Cold Spring Harb Mol Case Stud (2017)

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

gan van Rijt, Willemijn J., Jager, Emmalie A., Allersma, Derk P., Aktuğlu Zeybek, A. Çiğdem, Bhattacharya, Kaustuv, Debray, François-Guillaume, Ellaway, Carolyn J., Gautschi, Matthias, Geraghty, Michael T., Gil-Ortega, David, Larson, Austin A., Moore, Francesca, Morava, Eva, Morris, Andrew A., Oishi, Kimihiko, Schiff, Manuel, Scholl-Bürgi, Sabine, Tchan, Michel C., Vockley, Jerry, Witters, Peter, Wortmann, Saskia B., van Spronsen, Francjan, Van Hove, Johan L. K., Derks, Terry G. J.
Cyhoeddwyd yn Genet Med (2020)