A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
Muenke, Maximilian, Schell, Ute, Hehr, Andreas, Robin, Nathaniel H, Losken, H. Wolfgang, Schinzel, Albert, Pulleyn, Louise J, Rutland, Paul, Reardon, William, Malcolm, Sue, Winter, Robin M
Published in Nature genetics (01.11.1994)
Published in Nature genetics (01.11.1994)
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Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome
Schell, U, Hehr, A, Feldman, G J, Robin, N H, Zackai, E H, de Die-Smulders, C, Viskochil, D H, Stewart, J M, Wolff, G, Ohashi, H
Published in Human molecular genetics (01.03.1995)
Published in Human molecular genetics (01.03.1995)
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Molecular Characterization of Breakpoints in Patients with Holoprosencephaly and Definition of the HPE2 Critical Region 2p21
Schell, Ute, Wienberg, Johannes, Köhler, Angelika, Bray-Ward, Patricia, Ward, Deeann E., Wilson, William G., Allen, William P., Lebel, Robert R., Sawyer, Jeffrey R., Campbell, Paul L., Aughton, David J., Punnett, Hope H., Lammer, Edward J., Kao, Fa-Ten, Ward, David C., Muenke, Maximilian
Published in Human molecular genetics (01.02.1996)
Published in Human molecular genetics (01.02.1996)
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