5 Einträge gefunden

1. Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature

   1. Abdelrazek, Ibrahim M.
   2. Holling, Tess
   3. Harms, Frederike Leonie
   4. Alawi, Malik
   5. Omar, Tarek
   6. Abdalla, Ebtesam
   7. Kutsche, Kerstin

   2023 - Forschungsinformationssystem des UKE
2. Functional analysis of CASK transcript variants expressed in human brain.

   1. Tibbe, Debora Rabea Uta
   2. Pan, Yingzhou Edward
   3. Reißner, Carsten
   4. Harms, Frederike Leonie
   5. Kreienkamp, Hans-Jürgen

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
3. Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization

   1. Pan, Yingzhou Edward
   2. Tibbe, Debora
   3. Harms, Frederike Leonie
   4. Reißner, Carsten
   5. Becker, Kerstin
   6. Dingmann, Bri
   7. Mirzaa, Ghayda

   2021 - Forschungsinformationssystem des UKE
4. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

   1. Harms, Frederike Leonie
   2. Girisha, Katta M
   3. Hardigan, Andrew A
   4. Kortüm, Fanny
   5. Shukla, Anju
   6. Alawi, Malik
   7. Dalal, Ashwin

   2017 - Forschungsinformationssystem des UKE
5. αPIX Is a Trafficking Regulator that Balances Recycling and Degradation of the Epidermal Growth Factor Receptor

   1. Kortüm, Fanny
   2. Harms, Frederike Leonie
   3. Hennighausen, Natascha
   4. Rosenberger, Georg

   2015 - Forschungsinformationssystem des UKE - frei zugänglich