Search Results - "SOBETZKO, DIANA" :: K.UTB vyhledávací portál

Novel GLRA1 Missense Mutation (P250T) in Dominant Hyperekplexia Defines an Intracellular Determinant of Glycine Receptor Channel Gating

by Saul, Brigitta, Kuner, Thomas, Sobetzko, Diana, Brune, Wolfram, Hanefeld, Folker, Meinck, Hans-Michael, Becker, Cord-Michael
Published in The Journal of neuroscience (01.02.1999)

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Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies

by Sobetzko, D, Sander, T, Becker, C M
Published in American journal of medical genetics (08.08.2001)

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Achondroplasia with the FGFR3 1138g→a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father

by SOBETZKO, DIANA, BRAGA, SUZANNE, RÜDEBERG, ANNA, SUPERTI-FURGA, ANDREA
Published in Journal of medical genetics (01.12.2000)

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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

by Sobetzko, D, Eich, G, Kalff-Suske, M, Grzeschik, K H, Superti-Furga, A
Published in American journal of medical genetics (31.01.2000)

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Novel GLRA1 Missense Mutation (P250T) in Dominant Hyperekplexia Defines an Intracellular Determinant of Glycine Receptor Channel Gating

Genetic variation of the human glycine receptor subunit genes GLRA3 and GLRB and susceptibility to idiopathic generalized epilepsies

Achondroplasia with the FGFR3 1138g→a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father

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

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