Concepedia

Diana Sobetzko

DS

Statistics

Publications

4

Citations

145

H-Index

4

Active since

1999

Affiliations

Friedrich-Alexander-Universität Erlangen-Nürnberg(Current)

University Children's Hospital Zurich

Diana Sobetzko is an author at Friedrich-Alexander-Universität Erlangen-Nürnberg specializing in genetics, molecular genetics, and genetic disorders.

Publications per year

1999–2002

4

Publications

4

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

Brigitta Saul, Thomas Kuner, Diana Sobetzko et al. · Journal of Neuroscience · 1999 · 106 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia

Diana Sobetzko, Jörg Ersch, Thomas Stallmach et al. · Ultrasound in Obstetrics and Gynecology · 2002 · 16 citations · Full text

Medicine, Genetics, Obstetrics +17

Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: Not a new syndrome, but two dominant mutations (GLI3 E543X andCOL2A1 G973R) in the same individual

Diana Sobetzko, Georg Eich, Martha Kalff-Suske et al. · American Journal of Medical Genetics · 2000 · 13 citations

Medicine, Genetics, Molecular Genetics +17

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

Diana Sobetzko, T. Sander, Cord‐Michael Becker · American Journal of Medical Genetics · 2001 · 10 citations

Life Sciences, Genetics, Molecular Genetics +17

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