Andreas R. Janecke
Department of Medical Biology and Human Genetics
Innsbruck Medical University
Schöpfstrasse 41
A-6020 Innsbruck
Austria
Name/email consistency: high
- GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. Janecke, A.R., Hennies, H.C., Günther, B., Gansl, G., Smolle, J., Messmer, E.M., Utermann, G., Rittinger, O. Am. J. Med. Genet. A (2005)
- Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1. Janecke, A.R., Dertinger, S., Ketelsen, U.P., Bereuter, L., Simma, B., Müller, T., Vogel, W., Offner, F.A. J. Pediatr. (2004)
- Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria. Janecke, A.R., Hirst-Stadlmann, A., Günther, B., Utermann, B., Müller, T., Löffler, J., Utermann, G., Nekahm-Heis, D. Hum. Genet. (2002)
- De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. Janecke, A.R., Nekahm, D., Löffler, J., Hirst-Stadlmann, A., Müller, T., Utermann, G. Hum. Genet. (2001)
- Molecular genetics of type 1 glycogen storage disease. Janecke, A.R., Mayatepek, E., Utermann, G. Mol. Genet. Metab. (2001)
- Mutation analysis in glycogen storage disease type 1 non-a. Janecke, A.R., Lindner, M., Erdel, M., Mayatepek, E., Möslinger, D., Podskarbi, T., Fresser, F., Stöckler-Ipsiroglu, S., Hoffmann, G.F., Utermann, G. Hum. Genet. (2000)
- Molecular diagnosis of type 1c glycogen storage disease. Janecke, A.R., Bosshard, N.U., Mayatepek, E., Schulze, A., Gitzelmann, R., Burchell, A., Bartram, C.R., Janssen, B. Hum. Genet. (1999)