3 Einträge gefunden

1. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

   1. Abdollahpour, Hengameh
   2. Alawi, Malik
   3. Kortüm, Fanny
   4. Beckstette, Michael
   5. Seemanova, Eva
   6. Komárek, Vladimír
   7. Rosenberger, Georg

   2015 - Forschungsinformationssystem des UKE
2. A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis

   1. Girisha, Katta M
   2. Abdollahpour, Hengameh
   3. Shah, Hitesh
   4. Bhavani, Gandham Srilakshmi
   5. Graham, John M
   6. Boggula, Vijay Raju
   7. Phadke, Shubha R

   2014 - Forschungsinformationssystem des UKE
3. Exom-Sequenzierung zur Identifizierung von Krankheitsgenen für seltene Syndrome: Erfahrungen aus Hamburg

   1. Kortüm, Fanny
   2. Abdollahpour, Hengameh
   3. Alawi, Malik
   4. Korenke, Georg Christoph
   5. Seemanova, Eva
   6. Tinschert, Sigrid
   7. Zenker, Martin

   2014 - Forschungsinformationssystem des UKE