Luitgard M. Graul-Neumann
Institute of Human Genetics
Charité
Campus Virchow-Klinikum
Berlin
Germany
Name/email consistency: high
- Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. Graul-Neumann, L.M., Hausser, I., Essayie, M., Rauch, A., Kraus, C. Am. J. Med. Genet. A (2008)
- Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia. Neumann, L.M., El Ghouzzi, V., Paupe, V., Weber, H.P., Fastnacht, E., Leenen, A., Lyding, S., Klusmann, A., Mayatepek, E., Pelz, J., Cormier-Daire, V. Am. J. Med. Genet. A (2006)
- Unexpected death of a 12 year old boy with monosomy 1p36. Neumann, L.M., Polster, T., Spantzel, T., Bartsch, O. Genet. Couns. (2004)
- Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation. Neumann, L.M., von Moers, A., Kunze, J., Blankenstein, O., Marquardt, T. Eur. J. Pediatr. (2003)
- Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type. Neumann, L., Kunze, J., Uhl, M., Stöver, B., Zabel, B., Spranger, J. Pediatr. Radiol (2003)
