Patrick Nitschké

responsable | Patrick Nitschké

Presentation

Patrick Nitschké

Contact

Send a message

Research: a scientific adventure

Our goal: to better understand genetic diseases to better treat them.

Resources & publications

Publications

Publication

AMPA-receptor specific biogenesis complexes control synaptic transmission and...
Publication

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and domin...
Publication

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis ...
Publication

MMP21 is mutated in human heterotaxy and is required for normal left-right as...
Publication

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
Publication

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and a...
Publication

A TP63 mutation causes prominent alopecia with mild ectodermal dysplasia.