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

Yazar: Prasun, Pankaj, Ginevic, Ilona, Oishi, Kimihiko
Yayımlandı Transl Gastroenterol Hepatol (2021)

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

Yazar: Imagawa, Eri, Diaz, George A., Oishi, Kimihiko
Yayımlandı Mol Genet Metab Rep (2020)

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

Yazar: Chapel-Crespo, Cristel C., Diaz, George A., Oishi, Kimihiko
Yayımlandı Expert Rev Endocrinol Metab (2016)

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

Yazar: Pagani, Mario R., Oishi, Kimihiko, Gelb, Bruce D., Zhong, Yi
Baskı/Yayın Bilgisi 2009

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

Yazar: Oishi, Kimihiko, Arnon, Ronen, Wasserstein, Melissa P., Diaz, George A.
Yayımlandı Pediatr Transplant (2016)

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

Yazar: Siegel, Casey, Arnon, Ronen, Florman, Sander, Bucuvalas, John, Oishi, Kimihiko
Yayımlandı Nutrients (2020)

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

Yazar: Prasun, Pankaj, Chapel-Crespo, Cristel, Williamson, Amy, Chu, Paul, Oishi, Kimihiko, Diaz, George
Yayımlandı J Inherit Metab Dis (2017)

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

Yazar: Schussler, Edith, Linkner, Rita V, Levitt, Jacob, Mehta, Lakshmi, Martignetti, John A, Oishi, Kimihiko
Yayımlandı Adv Genomics Genet (2018)

Knowledge and attitudes on pharmacogenetics among pediatricians

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

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

Yazar: 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.
Baskı/Yayın Bilgisi 2009

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

Yazar: 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.
Baskı/Yayın Bilgisi 2008

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

Yazar: 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.
Yayımlandı 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

Yazar: 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.
Yayımlandı Genet Med (2020)