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Number of items: 7.

Kraft, M; Cirstea, I C; Voss, A K; Thomas, T; Goehring, I; Sheikh, B N; Gordon, L; Scott, H; Smyth, G K; Ahmadian, M R; Trautmann, U; Zenker, M; Tartaglia, M; Ekici, A; Reis, A; Dörr, H G; Rauch, A; Thiel, C T (2011). Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. Journal of Clinical Investigation, 121(9):3479-3491.

Zahnleiter, D; Trautmann, U; Ekici, A B; Goehring, I; Reis, A; Dörr, H G; Rauch, A; Thiel, C T (2011). Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum. European Journal of Medical Genetics, 54(5):e521-e524.

Thiel, C T; Rauch, A (2011). The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum. Best Practice & Research: Clinical Endocrinology & Metabolism, 25(1):131-142.

Kantaputra, P; Tanpaiboon, P; Porntaveetus, T; Ohazama, A; Sharpe, P; Rauch, A; Hussadaloy, A; Thiel, C T (2011). The smallest teeth in the world are caused by mutations in the PCNT gene. American Journal of Medical Genetics. Part A, 155(6):1398-1403.

Göhring, I; Tagariello, A; Endele, S; Stolt, C C; Ghassibé, M; Fisher, M; Thiel, C T; Trautmann, U; Vikkula, M; Winterpacht, A; FitzPatrick, D R; Rauch, A (2010). Disruption of ST5 is associated with mental-retardation and multiple congenital anomalies. Journal of Medical Genetics, 47(2):91-98.

Ekici, A B; Hilfinger, D; Jatzwauk, M; Thiel, C T; Wenzel, D; Lorenz, I; Boltshauser, E; Goecke, T W; Staatz, G; Morris-Rosendahl, D J; Sticht, H; Hehr, U; Reis, A; Rauch, A (2010). Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Media Diverticulum. Molecular Syndromology:99-112.

Ekici, A B; Hilfinger, D; Jatzwauk, M; Thiel, C T; Wenzel, D; Lorenz, I; Boltshauser, E; Goecke, T W; Staatz, G; Morris-Rosendahl, D J; Sticht, H; Hehr, U; Reis, A; Rauch, A (2010). Disturbed wnt signalling due to a mutation in CCDC88C causes an autosomal recessive non-syndromic hydrocephalus with medial diverticulum. Molecular Syndromology, 1(3):99-112.

This list was generated on Sat Sep 23 16:39:39 2017 CEST.