Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation
- Creator: Molinari, Florence , Foulquier, François , Matthijs, Gert , Gecz, Jozef , Munnich, Arnold , Colleaux, Laurence , Tarpey, Patrick S. , Morelle, Willy , Boissel, Sarah , Teague, Jon , Edkins, Sarah , Futreal, P. Andrew , Stratton, Michael R. , Turner, Gillian
- Resource Type: journal article
- Date: 2008
Twenty-six novel EFNB1 mutations in familial and sporadic cranlofrontonasal syndrome (CFNS)
- Creator: Wieland, I. , Reardon, W. , Jakubiczka, S. , Franco, B. , Kress, W. , Vincent-Delorme, C. , Thierry, P. , Edwards, Matthew , Konig, R. , Rusu, C. , Schweiger, S. , Thompson, E. , Tinschert, S. , Stewart, F. , Wieacker, P.
- Resource Type: journal article
- Date: 2005