Diana Sobetzko - Concepedia

Author

Diana Sobetzko

Also Known As

D. Sobetzko, DIANA SOBETZKO, Diana Sobetzko

Publications

169

Citations

H-Index

Concepts

All Affiliations

Diana Sobetzko is an author at Friedrich-Alexander-Universität Erlangen-Nürnberg specializing in genetics, medicine, and neurogenetics.

#	Concept	H-Index	Publications	Citations
1	Medicine	2	2	119
2	Cell Biology	1	1	106
3	Cellular Physiology	1	1	106
4	Molecular Biology	1	1	106
5	Molecular Genetics	1	1	13

Diana Sobetzko

Publications

145

Citations

H-Index

Page 1

	Year	Citations
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, Journal of Neuroscience GeneticsGlycine Receptor ChannelMolecular BiologyAmino Acid SubstitutionIntracellular Determinant	1999	106
Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia Nicole Ochsenbein‐Kölble, Diana Sobetzko, Jörg Ersch, Ultrasound in Obstetrics and Gynecology	2002	16
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, American Journal of Medical Genetics Developmental AnomalyDevelopmental BiologyMendelian DisorderConnective Tissue DiseaseGenetic Disorder	2000	13
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

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