@cpschaaf.bsky.social & his team developed two new mouse models of the Bosch-Boonstra-Schaad optic atrophy syndrome, carrying patient-specific Nr2f1 variants and capturing key aspects of the #BBSOAS, offering insights into genotype-phenotype links underlying the syndrome.
#raredisease
bit.ly/4rsjQVC

HEUTE: #Marsilius kontrovers "Genetisch getestet ins Leben starten"
19 Uhr im Marsilius-Kolleg (INF 130.1, Heidelberg) und im Livestream: www.marsilius-kolleg.uni-heidelberg.de/de/genetisch...

@uniheidelberg.bsky.social @ethicswinkler.bsky.social @cpschaaf.bsky.social @michaelboutros.bsky.social

Leitung des Zytogenetischen Labors (m/w/d) Pflichtfelder sind mit einem (*) markiert.

Leitung des zytogenetischen Labors am Institut für Humangenetik des Universitätsklinikums Heidelberg neu zu besetzen.

karriere.klinikum.uni-heidelberg.de/index.php?ac...

The Natural Course of Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome Here, we present data on genetic variants and phenotype development of 47 individuals with Bosch-Boonstra-Schaaf optic atrophy syndrome, a rare neurodevelopmental disorder, highlighting the fact that....

Our work on the natural course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome out now: doi.org/10.1111/cge....

Excellent job opportunity at the Institute of Human Genetics in Heidelberg.
www.linkedin.com/jobs/view/41...