Maintenance work on the ZORA databases is scheduled for Wednesday 22 May 2019 from 20:00-22:00. During this period ZORA and JDB will not be available. Thank you for your understanding.
Kretz, R; Bozorgmehr, B; Kariminejad, M H; Rohrbach, M; Hausser, I; Baumer, A; Baumgartner, M; Giunta, C; Kariminejad, A; Häberle, J (2011). Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities. Journal of Inherited Metabolic Disease, 34(3):731-739.
Kariminejad, A; Kariminejad, R; Moshtagh, A; Zanganeh, M; Kariminejad, M H; Neuenschwander, S; Okoniewski, M; Wey, E; Schinzel, A; Baumer, A (2011). Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18. European Journal of Human Genetics, 19(5):555-560.
Kariminejad, A; Bozorgmehr, B; Khatami, A R; Kariminejad, M H; Giunta, C; Steinmann, B (2010). Ehlers-Danlos syndrome type VI in a 17-year-old Iranian boy with severe muscular weakness – a diagnostic challenge? Iranian Journal of Pediatrics, 20(3):358-362.