Browsing Human- und Zahnmedizin by Referee "Wollnik, Bernd Prof. Dr."
Now showing items 1-4 of 4
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Functional CRISPR repair of induced pluripotent stem cells from patients with Noonan syndrome-associated cardiac hypertrophy
(2024-05-17)Noonan syndrome (NS) is a multisystemic disorder and characterised by its vast clinical variety including craniofacial dysmorphism, short stature and congenital heart defects resulting in severe pulmonary stenosis, ... -
Genetische Ursachen syndromaler und nicht-syndromaler Formen der Lippen-Kiefer-Gaumenspalte und funktionelle Analyse möglicher Kandidatengene
(2023-11-17)Oro- and craniofacial malformations comprise a heterogeneous group of congenital developmental disorders of the face and/or skull. Oro- and craniofacial malformations can present in different forms, and can occur as both, ... -
Biallelic LZTR1 Mutations Activate RAS- MAPK Signaling and Cause Hypertrophic Cardiomyopathy in iPSC-Derived Cardiomyocytes of a Novel Type of Noonan Syndrome
(2023-02-06)Noonan syndrome is a multisystemic disorder with variable expressivity, characterized by typical craniofacial features, physical and mental retardation with cardiovascular abnormalities. Noonan syndrome is the most common ... -
Characterization of the cardiogenesis in embryos of a Gse-1tm-1a(EUCOMM)Wtsi mouse line
(2021-07-16)HLHS is classified as a cyanotic heart disease, which accounts for 25% of all CHD mortalities. It is the leading cause of death in infants under the age of one year. One human candidate gene called KIAA00182 (Gse-1 in mice) ...