3 Einträge gefunden

1. More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly

   1. Kloth, K
   2. Graul-Neumann, L
   3. Hermann, K
   4. Johannsen, J
   5. Bierhals, T
   6. Kortüm, F

   2021 - Forschungsinformationssystem des UKE
2. Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8

   1. Schmidt, T
   2. Bierhals, T
   3. Kortüm, F
   4. Bartels, I
   5. Liehr, T
   6. Burfeind, P
   7. Shoukier, M

   2014 - Forschungsinformationssystem des UKE
3. Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci

   1. Chilian, B
   2. Abdollahpour, H
   3. Bierhals, T
   4. Haltrich, I
   5. Fekete, G
   6. Nagel, I
   7. Rosenberger, G

   2013 - Forschungsinformationssystem des UKE