Genetik & Seltene Syndrome

Phenotypic and molecular insights into CASK-related disorders in males
U Moog, T Bierhals, K Brand, J Bautsch, S Biskup, T Brune, J Denecke, …
Orphanet Journal of Rare Diseases 10, 1–20 (2015)

Characterization of the N-glycosylation phenotype of erythrocyte membrane proteins in congenital dyserythropoietic anemia type II (CDA II/HEMPAS)
J Denecke, C Kranz, M Nimtz, HS Conradt, T Brune, H Heimpel, …
Glycoconjugate Journal 25, 375–382 (2008)

Kirner’s deformity of all fingers in a 5-year-old girl: soft-tissue enhancement with normal bones on contrast-enhanced MRI
T Brune, M Schiborr, D Maintz, T Marquardt, M Frosch, E Harms
Pediatric Radiology 33, 709–711 (2003)

Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism
T Marquardt, T Brune, K Lühn, KP Zimmer, C Körner, L Fabritz, …
The Journal of Pediatrics 134 (6), 681–688 (1999)

Yunis-Varon syndrome: the first case of German origin
H Rabe, T Brune, R Rossi, V Steinhorst, G Jorch, J Horst, B Wittwer
Clinical Dysmorphology 5 (3), 217–222 (1996)