Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective
S Cuinat, C Quélin, C Effray, C Dubourg… - Journal of Medical …, 2024 - jmg.bmj.com
Introduction Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple
congenital anomaly disorder caused by RLIM variations. Of the 41 patients reported, only 7 …
congenital anomaly disorder caused by RLIM variations. Of the 41 patients reported, only 7 …
Development of a method to tune endogenous gene expression and its application to study dose-sensitivity in transcriptional regulation and random X-chromosome …
G Noviello - 2024 - edoc.hu-berlin.de
Certain biological processes are dose-dependent, depending not only on the presence or
absence of given gene products but also on their specific. The importance of quantitative …
absence of given gene products but also on their specific. The importance of quantitative …