3 Einträge gefunden

1. Phenotype in an Infant with SOD1 Homozygous Truncating Mutation

   1. Andersen, Peter M
   2. Nordström, Ulrika
   3. Tsiakas, Konstantinos
   4. Johannsen, Jessika
   5. Volk, Alexander E
   6. Bierhals, Tatjana
   7. Zetterström, Per

   2019 - Forschungsinformationssystem des UKE
2. Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant

   1. Johannsen, Jessika
   2. Bierhals, Tatjana
   3. Deindl, Philipp
   4. Hecher, Laura
   5. Hermann, Katharina
   6. Hempel, Maja
   7. Kloth, Katja

   2019 - Forschungsinformationssystem des UKE
3. 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