3 Einträge gefunden

1. Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2

   1. Schneeberger, Pauline E
   2. Nayak, Shalini S
   3. Fuchs, Sigrid
   4. Kutsche, Kerstin
   5. Girisha, Katta M

   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
3. Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca²⁺-Activated K⁺ Channel SK3 Cause Zimmermann-Laband Syndrome

   1. Bauer, Christiane K
   2. Schneeberger, Pauline E
   3. Kortüm, Fanny
   4. Altmüller, Janine
   5. Santos-Simarro, Fernando
   6. Baker, Laura
   7. Keller-Ramey, Jennifer

   2019 - Forschungsinformationssystem des UKE