Institut für Humangenetik der Uniklinik Aachen
Description of facility
Director / Spokesperson
Prof. Dr. med. Ingo KurthInformation
Care facility for adults and childrenDescription
Im Rahmen der akkreditierten Diagnostik kommen moderne Methoden wie die Hochdurchsatzsequenzierung am Institut für Humangenetik zum Einsatz. Neben Lehrangeboten für Studierende finden Sie auf der Website Details zu den Forschungsprojekten des Instituts. Es ist ein zentrales Anliegen des Instituts, die molekularen Ursachen genetischer Erkrankungen zu verstehen.
Consultation hours
nach Vereinbarung.
Care provisions
This facility offers the following
- Genetic counselling
- Diagnostic
Contact
Sekretariat
0241 8080178
0241 8082580
humangenetik@ukaachen.de
Website
http://www.humangenetik.ukaachen.de/
Secondary Contact
Terminvergabe für Sprechstunde
0241 8085572
Languages
Deutsch
Englisch
European Reference Network 1
Preview of the assigned diseases 3
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Silver-Russell syndrome due to an imprinting defect of 11p15
Silver-Russell syndrome due to 7p11.2p13 microduplication
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Bardet-Biedl syndrome
Beckwith-Wiedemann syndrome
Silver-Russell syndrome
Silver-Russell syndrome due to a point mutation
Meckel syndrome
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Autosomal dominant polycystic kidney disease
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Joubert syndrome
Beckwith-Wiedemann syndrome due to NSD1 mutation
6.044572716416757550.7769086Institut für Humangenetik der Uniklinik Aachen
Last updated:
10.08.2023