| Autor: |
Caroline M, Kolvenbach, Tim, Felger, Luca, Schierbaum, Isabelle, Thiffault, Tomi, Pastinen, Maria, Szczepańska, Marcin, Zaniew, Piotr, Adamczyk, Allan, Bayat, Öznur, Yilmaz, Tobias T, Lindenberg, Holger, Thiele, Friedhelm, Hildebrandt, Katrin, Hinderhofer, Ute, Moog, Alina C, Hilger, Bonnie, Sullivan, Lauren, Bartik, Piotr, Gnyś, Phillip, Grote, Benjamin, Odermatt, Heiko M, Reutter, Gabriel C, Dworschak |
| Rok vydání: |
2022 |
| Zdroj: |
Journal of medical genetics. |
| ISSN: |
1468-6244 |
| Popis: |
Here, exome sequencing and CNV analyses besides expression studies in zebrafish and mouse andIn this study, we identified putative disease-causing SNVs and CNVs inThe identified SNVs and CNVs in affected individuals with congenital anomalies of the urinary tract, the anorectal, the cardiovascular and the central nervous systems, and subsequent embryonic mouse and zebrafish studies suggest |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
|
