-
Article
Open AccessGenome sequencing in families with congenital limb malformations
The extensive clinical and genetic heterogeneity of congenital limb malformation calls for comprehensive genome-wide analysis of genetic variation. Genome sequencing (GS) has the potential to identify all gene...
-
Article
Präimplantationsdiagnostik
Paare mit Kinderwunsch, bei denen aufgrund genetischer Veränderungen eine erhöhte Wahrscheinlichkeit für eine Fehl- oder Totgeburt oder ein erhöhtes Risiko für die Geburt eines Kindes mit einer schweren, genet...
-
Article
Open AccessLarge homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1
Warburg micro syndrome (WARBM) is a genetic heterogeneous disease characterized by microcephaly, intellectual disability, brain, ocular, and endocrine anomalies. WARBM1-4 can be caused by biallelic mutations o...
-
Article
Conditional and reversible disruption of essential herpesvirus proteins
A system for inducible protein degradation, originally developed for mammalian cells, is applied to essential viral proteins and will allow functional studies in a wide range of viruses.
-
Article
Neonatal manifestation of multiple sulfatase deficiency
Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides.
-
Article
Phenotypes of major immediate-early gene mutants of mouse cytomegalovirus
Immediate-early (IE) genes are the first genes to be transcribed during the lytic replication cycle of cytomegaloviruses (CMV), and encode nonstructural proteins, which are assumed to have mainly regulatory fu...
-
Article
Open AccessImmunodominant PstS1 antigen of mycobacterium tuberculosis is a potent biological response modifier for the treatment of bladder cancer
Bacillus Calmette Guérin (BCG)-immunotherapy has a well-documented and successful clinical history in the treatment of bladder cancer. However, regularly observed side effects, a certain degree of nonresponder...
