Jörg Seidel
Department of Pediatrics
Friedrich-Schiller-University
Kochstrasse 2
D-07740 Jena
Germany
Name/email consistency: high
- A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature. Seidel, J., Heller, A., Senger, G., Starke, H., Chudoba, I., Kelbova, C., Tönnies, H., Neitzel, H., Haase, C., Beensen, V., Zintl, F., Claussen, U., Liehr, T. Eur. J. Pediatr. (2003)
- Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. Seidel, J., Streck, S., Bellstedt, K., Vianey-Saban, C., Pedersen, C.B., Vockley, J., Korall, H., Roskos, M., Deufel, T., Trefz, K.F., Sewell, A.C., Kauf, E., Zintl, F., Lehnert, W., Gregersen, N. J. Inherit. Metab. Dis. (2003)
- Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation. Seidel, J., Schiller, S., Kelbova, C., Beensen, V., Orth, U., Vogt, S., Claussen, U., Zintl, F., Rappold, G.A. Clin. Genet. (2001)
- Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome. Seidel, J., Møller, L.B., Mentzel, H.J., Kauf, E., Vogt, S., Patzer, S., Wollina, U., Zintl, F., Horn, N. Cell. Mol. Biol. (Noisy-le-grand) (2001)
- Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD). Seidel, J., Caca, K., Schwab, S.G., Berr, F., Wildenauer, D.B., Mentzel, H.J., Horn, N., Kauf, E. Cell. Mol. Biol. (Noisy-le-grand) (2001)
