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Research | 8 July 2015
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone–rod dystrophy by pseudoexon activation
- nicole.weisschuh@uni-tuebingen.de
- Anja K Mayer
- , Klaus Rohrschneider
- , Tim M Strom
- , Nicola Glöckle
- , Susanne Kohl
- , Bernd Wissinger
- & Nicole Weisschuh
European Journal of Human Genetics 24 , 459–462

Rights & permissionsfor article Homozygosity mapping and whole-genome sequencing reveals a deep intronic <i>PROM1</i> mutation causing cone–rod dystrophy by pseudoexon activation . Opens in a new window.
Research | 13 October 2010
Clinical utility gene card for: Axenfeld–Rieger syndrome
- nicole.weisschuh@uni-tuebingen.de
European Journal of Human Genetics 19 , 1–3

Rights & permissionsfor article Clinical utility gene card for: Axenfeld–Rieger syndrome . Opens in a new window.
Research | 1 August 2017 | Open
CDHR1 mutations in retinal dystrophies
- nicole.weisschuh@uni-tuebingen.de
- Katarina Stingl
- , Anja K. Mayer
- , Pablo Llavona
- , Lejla Mulahasanovic
- , Günther Rudolph
- , Samuel G. Jacobson
- , Eberhart Zrenner
- , Susanne Kohl
- , Bernd Wissinger
- & Nicole Weisschuh
Scientific Reports 7 , 1–11

Rights & permissionsfor article <i>CDHR1</i> mutations in retinal dystrophies . Opens in a new window.

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