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Number of items: 6.

Hofmann, K; Becker, Jutta; Heller, R; Boute, O; Andrieux, J; Hoyer, J; Ekici, A B; Reis, A; Rauch, A (2011). 7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). European Journal of Medical Genetics, 54(5):e495-e500.

Gregor, A; Albrecht, B; Bader, I; Bijlsma, E K; Ekici, A B; Engels, H; Hackmann, K; Horn, D; Hoyer, J; Klapecki, J; Kohlhase, J; Maystadt, I; Nagl, S; Prott, E; Tinschert, S; Ullmann, R; Wohlleber, E; Woods, G; Reis, A; Rauch, A; Zweier, C (2011). Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Medical Genetics, 12:106.

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.

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.

Zweier, C; de Jong, E K; Zweier, M; Oricco, A; Ousager, L B; Collins, A L; Bijlsma, E K; Oortveld, M A V; Ekici, A B; Reis, A; Schenck, A; Rauch, A (2009). CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. American Journal of Human Genetics, 85(5):655-666.

This list was generated on Mon Feb 18 09:08:37 2019 CET.