Browsing by Author Yau, Shu
Showing results 1 to 1 of 1
| Issue Date | Title | Author(s) |
| 2013 | Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy | Cullup, Thomas; Kho, Ay Lin; Dionisi-Vici, Carlo; Brandmeier, Birgit; Smith, Frances; Urry, Zoe; Simpson, Michael A.; Yau, Shu; Bertini, Enrico; McClelland, Verity; Al-Owain, Mohammed; Koelker, Stefan; Koerner, Christian; Hoffmann, Georg F.; Wijburg, Frits A.; ten Hoedt, Amber E.; Curtis Rogers, R.; Manchester, David; Miyata, Rie; Hayashi, Masaharu; Said, Edith; Soler, Doriette; Kroisel, Peter M.; Windpassinger, Christian; Filloux, Francis M.; Al-Kaabi, Salwa; Hertecant, Jozef; Del Campo, Miguel; Buk, Stefan; Bodi, Istvan; Goebel, Hans-Hilmar; Sewry, Caroline A.; Abbs, Stephen; Mohammed, Shehla; Josifova, Dragana; Gautel, Mathias; Jungbluth, Heinz |
