6 Einträge gefunden

1. Recessive mutations in >VPS13D cause childhood-onset movement disorders

   1. Gauthier, Julie
   2. Meijer, Inge A
   3. Lessel, Davor
   4. Mencacci, Niccolò E
   5. Krainc, Dimitri
   6. Hempel, Maja
   7. Tsiakas, Konstantinos

   2018 - Forschungsinformationssystem des UKE
2. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

   1. Lessel, Davor
   2. Gehbauer, Christina
   3. Bramswig, Nuria C
   4. Schluth-Bolard, Caroline
   5. Venkataramanappa, Sathish
   6. van Gassen, Koen L I
   7. Hempel, Maja

   2018 - Forschungsinformationssystem des UKE
3. 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
4. Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies

   1. Hempel, Maja
   2. Casar Tena, Teresa
   3. Diehl, Thilo
   4. Burczyk, Martina S
   5. Strom, Tim M
   6. Kubisch, Christian
   7. Philipp, Melanie

   2017 - Forschungsinformationssystem des UKE
5. 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
6. 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