Two novel variants in the TCF12 gene identified in cases with craniosynostosis by Goumenos A, Tsoutsou E, Traeger-Synodinos J, Petychakis D, Gavra M, Kolialexi A, Frysira H

Get full text

Partial rescue of truncating mutations in the ATRX gene through unusual intra-exonic splicing by Malik, N, Fisher, C, Fryer, A, Goudie, DR, Krantz, I, Traeger-Synodinos, J, Gibbons, R

Mutations in the chromatin-associated protein ATRX. by Gibbons, R, Wada, T, Fisher, C, Malik, N, Mitson, M, Steensma, D, Fryer, A, Goudie, DR, Krantz, I, Traeger-Synodinos, J

ATR-16 syndrome: mechanisms linking monosomy to phenotype by Babbs, C, Brown, J, Horsley, S, Slater, J, Maifoshie, E, Kumar, S, Ooijevaar, P, Kreik, M, Dixon-Mciver, A, Harteveld, C, Traeger-Synodinos, J, Wilkie, A, Higgs, D, Buckle, V