1. A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14. Issue 4 (1st April 2004) Authors: Steiner, C; Ehtesham, N; Taylor, K D; Sebald, E; Cantor, R; King, L M; Guo, X; Hang, T; Hu, M S; Cui, J-R; Friedman, B; Norato, D; Allanson, J; Honeywell, C; Mettler, G; Field, F; Lachman, R; Cohn, D H; Krakow, D Journal: Journal of medical genetics Issue: Volume 41:Issue 4(2004) Page Start: 266 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. Issue 8 (8th June 2009) Authors: Furuichi, T; Kayserili, H; Hiraoka, S; Nishimura, G; Ohashi, H; Alanay, Y; Lerena, J C; Aslanger, A D; Koseki, H; Cohn, D H; Superti-Furga, A; Unger, S; Ikegawa, S Journal: Journal of medical genetics Issue: Volume 46:Issue 8(2009) Page Start: 562 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mutations in FLNB cause boomerang dysplasia. Issue 7 (1st July 2005) Authors: Bicknell, L S; Morgan, T; Bonafé, L; Wessels, M W; Bialer, M G; Willems, P J; Cohn, D H; Krakow, D; Robertson, S P Journal: Journal of medical genetics Issue: Volume 42:Issue 7(2005) Page Start: e43 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. Issue 1 (1st January 2003) Authors: Ballhausen, D; Bonafé, L; Terhal, P; Unger, S L; Bellus, G; Classen, M; Hamel, B C; Spranger, J; Zabel, B; Cohn, D H; Cole, W G; Hecht, J T; Superti-Furga, A Journal: Journal of medical genetics Issue: Volume 40:Issue 1(2003) Page Start: 65 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗