Autor/in Kortüm, F Bierhals, T 2 Kutsche, K 2 Alawi, M 1 Altmüller, J 1 Bartels, I 1 Bergmann, C 1 Burfeind, P 1 Frank, V 1 Graul-Neumann, L 1 Harms, F L 1 Hermann, K 1 Johannsen, J 1 Kloth, K 1 Liehr, T 1 Nampoothiri, S 1 Panicker, V V 1 Schmidt, T 1 Shoukier, M 1 Thomas, J 1 Yesodharan, D 1 alle zeigenListe einklappen
More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly Kloth, K Graul-Neumann, L Hermann, K Johannsen, J Bierhals, T Kortüm, F 2021 - Forschungsinformationssystem des UKE
Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body Harms, F L Nampoothiri, S Kortüm, F Thomas, J Panicker, V V Alawi, M Altmüller, J 2018 - Forschungsinformationssystem des UKE
Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8 Schmidt, T Bierhals, T Kortüm, F Bartels, I Liehr, T Burfeind, P Shoukier, M 2014 - Forschungsinformationssystem des UKE