Einträge von Hehr, U auf dem Publikationsserver

Lacbawan, F, Solomon, B D, Roessler, E, El-Jaick, K , Domene, S, Velez, J I , Zhou, N, Hadley, D, Balog, J Z, Long, R, Fryer, A, Smith, W, Omar, S, McLean, S D, Clarkson, K, Lichty, A, Clegg, N J, Delgado, M R, Levey, E, Stashinko, E, Potocki, L, VanAllen, M I, Clayton-Smith, J, Donnai, D, Bianchi, D W, Juliusson, P B, Njolstad, P R, Brunner, H G, Carey, J C, Hehr, U, Musebeck, J, Wieacker, P F, Postra, A, Hennekam, R C M, van den Boogaard, M-J H, van Haeringen, A, Paulussen, A, Herbergs, J, Schrander-Stumpel, C T R M, Janecke, A R , Chitayat, D, Hahn, J, McDonald-McGinn, D M, Zackai, E H, Dobyns, W B und Muenke, M (2009) Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. Journal of Medical Genetics 46 (6), S. 389-398. Volltext nicht vorhanden.

Schule, R, Schlipf, N, Synofzik, M, Klebe, S, Klimpe, S, Hehr, U, Winner, B , Lindig, T, Dotzer, A, Riess, O, Winkler, J, Schols, L und Bauer, P (2009) Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. Journal of Neurology, Neurosurgery & Psychiatry 80 (12), S. 1402-1404. Volltext nicht vorhanden.

Hehr, U (2006) A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. Journal of Medical Genetics 43 (6), S. 541-544. Volltext nicht vorhanden.