A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.

por Laurie H Seaver, Xue-Ying He, Keith Abe, Tina Cowan, Gregory M Enns, Lawrence Sweetman, Manfred Philipp, Sansan Lee, Mazhar Malik, Song-Yu Yang
Publicado 2011

Mapping gene associations in human mitochondria using clinical disease phenotypes.

por Curt Scharfe, Henry Horng-Shing Lu, Jutta K Neuenburg, Edward A Allen, Guan-Cheng Li, Thomas Klopstock, Tina M Cowan, Gregory M Enns, Ronald W Davis
Publicado 2009

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

por Natalia Gomez-Ospina, Carol J. Potter, Rui Xiao, Kandamurugu Manickam, Mi-Sun Kim, Kang Ho Kim, Benjamin L. Shneider, Jennifer L. Picarsic, Theodora A. Jacobson, Jing Zhang, Weimin He, Pengfei Liu, A. S. Knisely, Milton J. Finegold, Donna M. Muzny, Eric Boerwinkle, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng, Yaping Yang, Gabriel C. Washington, Matthew H. Porteus, William E. Berquist, Neeraja Kambham, Ravinder J. Singh, Fan Xia, Gregory M. Enns, David D. Moore
Publicado 2016