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Results: 1-5 |
Results: 5

Authors: Sobetzko, D Sander, T Becker, CM
Citation: D. Sobetzko et al., Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies, AM J MED G, 105(6), 2001, pp. 534-538

Authors: Sobetzko, D Eich, G Kalff-Suske, M Grzeschik, KH Superti-Furga, A
Citation: D. Sobetzko et al., Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: Not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual, AM J MED G, 90(3), 2000, pp. 239-242

Authors: Sobetzko, D Braga, S Rudeberg, A Superti-Furga, A
Citation: D. Sobetzko et al., Achondroplasia with the FGFR3 1138g -> a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father, J MED GENET, 37(12), 2000, pp. 958-959

Authors: Konrad, D Sobetzko, D Schmitt, B Schoenle, EJ
Citation: D. Konrad et al., Insulin-dependent diabetes mellitus induced by the antitussive agent dextromethorphan, DIABETOLOG, 43(2), 2000, pp. 261-262

Authors: Saul, B Kuner, T Sobetzko, D Brune, W Hanefeld, F Meinck, HM Becker, CM
Citation: B. Saul et al., Novel GLRA1 missense mutation (P250T) in dominant hyperekplexia defines anintracellular determinant of glycine receptor channel gating, J NEUROSC, 19(3), 1999, pp. 869-877
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