1. Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III. Issue 4 (1st April 2004) Authors: Raas-Rothschild, A; Bargal, R; Goldman, O; Ben-Asher, E; Groener, J E M; Toutain, A; Stemmer, E; Ben-Neriah, Z; Flusser, H; Beemer, F A; Penttinen, M; Olender, T; Rein, A J J T; Bach, G; Zeigler, M Journal: Journal of medical genetics Issue: Volume 41:Issue 4(2004) Page Start: e52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome. Issue 10 (October 1988) Authors: Raas-Rothschild, A; Goodman, R M; Meyer, S; Katznelson, M B; Winter, S T; Gross, E; Tamarkin, M; Ben-Ami, T; Nebel, L; Mashiach, S Journal: Journal of medical genetics Issue: Volume 25:Issue 10(1988) Page Start: 687 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. Issue 1 (1st July 2009) Authors: Vega, H; Trainer, A H; Gordillo, M; Crosier, M; Kayserili, H; Skovby, F; Uzielli, M L Giovannucci; Schnur, R E; Manouvrier, S; Blair, E; Hurst, J A; Forzano, F; Meins, M; Simola, K O J; Raas-Rothschild, A; Hennekam, R C M; Jabs, E Wang Journal: Journal of medical genetics Issue: Volume 47:Issue 1(2010) Page Start: 30 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. Issue 12 (December 1996) Authors: Raas-Rothschild, A; Manouvrier, S; Gonzales, M; Farriaux, J P; Lyonnet, S; Munnich, A Journal: Journal of medical genetics Issue: Volume 33:Issue 12(1996) Page Start: 996 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗