@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
Christian Schaaf
@cpschaaf.bsky.social
Medical Director and Department Chair, Institute of Human Genetics, Heidelberg University
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
Marsilius kontrovers: Genetisch getestet ins Leben starten? Diskussionsrunde zu Chancen und Risiken des genomischen Screenings bei Neugeborenen www.uni-heidelberg.de/de/newsroom/... #universität #heidelberg #uniheidelberg #genom #screening
Leitung des zytogenetischen Labors am Institut für Humangenetik des Universitätsklinikums Heidelberg neu zu besetzen. karriere.klinikum.uni-heidelberg.de/index.php?ac...
Leitung des Zytogenetischen Labors (m/w/d)
Pflichtfelder sind mit einem (*) markiert.
karriere.klinikum.uni-heidelberg.de
Our work on the natural course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome out now: doi.org/10.1111/cge....
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....
doi.org
Excellent job opportunity at the Institute of Human Genetics in Heidelberg. www.linkedin.com/jobs/view/41...
University Hospital Heidelberg (UKHD) hiring Postdoc - Developmental Biology and Disease Modeling (m/f/d) in Heidelberg, Baden-Württemberg, Germany | LinkedIn
Posted 3:16:27 PM. The University Hospital Heidelberg is one of the major healthcare centers in Germany. Our objective…See this and similar jobs on LinkedIn.
linkedin.com