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

Bằng Prasun, Pankaj, Ginevic, Ilona, Oishi, Kimihiko
Xuất bản năm Transl Gastroenterol Hepatol (2021)

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

Bằng Imagawa, Eri, Diaz, George A., Oishi, Kimihiko
Xuất bản năm Mol Genet Metab Rep (2020)

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

Bằng Chapel-Crespo, Cristel C., Diaz, George A., Oishi, Kimihiko
Xuất bản năm Expert Rev Endocrinol Metab (2016)

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

Bằng Pagani, Mario R., Oishi, Kimihiko, Gelb, Bruce D., Zhong, Yi
Được phát hành 2009

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

Bằng Oishi, Kimihiko, Arnon, Ronen, Wasserstein, Melissa P., Diaz, George A.
Xuất bản năm Pediatr Transplant (2016)

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

Bằng Siegel, Casey, Arnon, Ronen, Florman, Sander, Bucuvalas, John, Oishi, Kimihiko
Xuất bản năm Nutrients (2020)

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

Bằng Prasun, Pankaj, Chapel-Crespo, Cristel, Williamson, Amy, Chu, Paul, Oishi, Kimihiko, Diaz, George
Xuất bản năm J Inherit Metab Dis (2017)

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

Bằng Schussler, Edith, Linkner, Rita V, Levitt, Jacob, Mehta, Lakshmi, Martignetti, John A, Oishi, Kimihiko
Xuất bản năm Adv Genomics Genet (2018)

Knowledge and attitudes on pharmacogenetics among pediatricians

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

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

Bằng 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.
Được phát hành 2009

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

Bằng 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.
Được phát hành 2008

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

Bằng 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.
Xuất bản năm 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

Bằng 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.
Xuất bản năm Genet Med (2020)