23929950 |
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function
Yoshida-Moriguchi, T,
Lee, H,
Muntoni, F,
Whyte, T,
Willer, T,
Nelson, SF,
Anderson, ME,
Yu, L,
Campbell, KP,
Venzke, D
|
Science |
2013 |
22958903 |
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome
Tambunan, DE,
Mora, M,
Eyaid, WM,
Gupta, VA,
Rodriguez, J,
Stevens, CR,
Clark, R,
Heinzen, EL,
Salih, MA,
Barry, BJ,
Manzini, MC,
Gabriel, SB,
Moroni, I,
Al-Qudah, AK,
Walsh, CA,
Maynard, TM,
Beggs, AH,
Shianna, KV,
Friedman, JM,
Yu, TW,
Hill, RS,
Partlow, JN
|
Am. J. Hum. Genet. |
2012 |