5 Einträge gefunden

1. Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

   1. Harms, Frederike L
   2. Kloth, Katja
   3. Bley, Annette
   4. Denecke, Jonas
   5. Santer, René
   6. Lessel, Davor
   7. Hempel, Maja

   2018 - Forschungsinformationssystem des UKE
2. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

   1. Lessel, Davor
   2. Schob, Claudia
   3. Küry, Sébastien
   4. Reinders, Margot R F
   5. Harel, Tamar
   6. Eldomery, Mohammad K
   7. Coban-Akdemir, Zeynep

   2017 - Forschungsinformationssystem des UKE
3. Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1

   1. Said, Edith
   2. Chong, Jessica X
   3. Hempel, Maja
   4. Denecke, Jonas
   5. Soler, Paul
   6. Strom, Tim
   7. Nickerson, Deborah A

   2017 - Forschungsinformationssystem des UKE
4. Lessons learned from additional research analyses of unsolved clinical exome cases

   1. Eldomery, Mohammad K
   2. Coban-Akdemir, Zeynep
   3. Harel, Tamar
   4. Rosenfeld, Jill A
   5. Gambin, Tomasz
   6. Stray-Pedersen, Asbjørg
   7. Küry, Sébastien

   2017 - Forschungsinformationssystem des UKE - frei zugänglich
5. First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features

   1. Kloth, Katja
   2. Denecke, Jonas
   3. Hempel, Maja
   4. Johannsen, Jessika
   5. Strom, Tim M
   6. Kubisch, Christian
   7. Lessel, Davor

   2017 - Forschungsinformationssystem des UKE