AAAAAA

   
Results: 1-4 |
Results: 4

Authors: Fokstuen, S Vrticka, K Riegel, M Da Silva, V Baumer, A Schinzel, A
Citation: S. Fokstuen et al., Velofacial hypoplasia (Sedlackova syndrome): a variant of velocardiofacial(Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2, EUR J PED, 160(1), 2001, pp. 54-57

Authors: Lamoril, J Puy, H Whatley, SD Martin, C Woolf, JR Da Silva, V Deybach, JC Elder, GH
Citation: J. Lamoril et al., Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria, AM J HU GEN, 68(5), 2001, pp. 1130-1138

Authors: Rosipal, R Lamoril, J Puy, H Da Silva, V Gouya, L De Rooij, FWM Te Velde, K Nordmann, Y Martasek, P Deybach, JC
Citation: R. Rosipal et al., Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update, HUM MUTAT, 13(1), 1999, pp. 44-53

Authors: Gouya, L Puy, H Lamoril, J Da Silva, V Grandchamp, B Nordmann, Y Deybach, JC
Citation: L. Gouya et al., Inheritance in erythropoietic protoporphyria: A common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation, BLOOD, 93(6), 1999, pp. 2105-2110
Risultati: 1-4 |