2 Einträge gefunden

1. A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

   1. Coste de Bagneaux, Pierre
   2. von Elsner, Leonie
   3. Bierhals, Tatjana
   4. Campiglio, Marta
   5. Johannsen, Jessika
   6. Obermair, Gerald J
   7. Hempel, Maja

   2020 - Forschungsinformationssystem des UKE
2. de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation

   1. Schneeberger, Pauline E
   2. Bierhals, Tatjana
   3. Neu, Axel
   4. Hempel, Maja
   5. Kutsche, Kerstin

   2019 - Forschungsinformationssystem des UKE - frei zugänglich