A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology
- Creator: Talseth-Palmer, B. A. , Bowden, N. A. , Scott, R. J. , Meldrum, C. , Nicholl, J. , Thompson, E. , Friend, K. , Liebelt, J. , Bratkovic, D. , Haan, E. , Yu, S.
- Resource Type: journal article
- Date: 2009
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