Publikationen von 0000-0003-3316-9323
(ORCID: 0000-0003-3316-9323)
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Gehe zu: 2009
Anzahl der Einträge: 2.
2009
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.
, 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.
Roessler, Erich, El-Jaick, Kenia B. , Dubourg, Christèle, Vélez, Jorge I. , Solomon, Benjamin D., Pineda-Álvarez, Daniel E., Lacbawan, Felicitas, Zhou, Nan, Ouspenskaia, Maia, Paulussen, Aimée, Smeets, Hubert J., Hehr, Ute, Bendavid, Claude, Bale, Sherri, Odent, Sylvie, David, Véronique und Muenke, Maximilian
(2009)
The mutational spectrum of holoprosencephaly-associated changes within theSHHgene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Human Mutation 30 (10), E921-E935.
Volltext nicht vorhanden.
, Dubourg, Christèle, Vélez, Jorge I. , Solomon, Benjamin D., Pineda-Álvarez, Daniel E., Lacbawan, Felicitas, Zhou, Nan, Ouspenskaia, Maia, Paulussen, Aimée, Smeets, Hubert J., Hehr, Ute, Bendavid, Claude, Bale, Sherri, Odent, Sylvie, David, Véronique und Muenke, Maximilian
(2009)
The mutational spectrum of holoprosencephaly-associated changes within theSHHgene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Human Mutation 30 (10), E921-E935.
Volltext nicht vorhanden.