Suchergebnisse - Bitoun, P.

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes von David, A., Bitoun, P., Lacombe, D., Lambert, J., Nivelon, A., Vigneron, J., Verloes, A.

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Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3 von Faivre, L, Le Merrer, M, Al-Gazali, L, Ausems, M, Bitoun, P, Bacq, D, Maroteaux, P, Munnich, A, Cormier-Daire, V

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Exclusion of epidermal growth factor and high-resolution physical mapping across the Rieger syndrome locus. von Semina, E. V., Datson, N. A., Leysens, N. J., Zabel, B. U., Carey, J. C., Bell, G. I., Bitoun, P., Lindgren, C., Stevenson, T., Frants, R. R., van Ommen, G., Murray, J. C.

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Genotype–phenotype correlation of 30 patients with Smith‐Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletion... von Andrieux, J, Villenet, C, Quief, S, Lignon, S, Geffroy, S, Roumier, C, de Leersnyder, H, de Blois, M‐C, Manouvrier, S, Delobel, B, Benzacken, B, Bitoun, P, Attie‐Bitach, T, Thomas, S, Lyonnet, S, Vekemans, M, Kerckaert, J‐P

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Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease von Muller, Jean, Stoetzel, C., Vincent, M. C., Leitch, C. C., Laurier, V., Danse, J. M., Hellé, S., Marion, V., Bennouna-Greene, V., Vicaire, S., Megarbane, A., Kaplan, J., Drouin-Garraud, V., Hamdani, M., Sigaudy, S., Francannet, C., Roume, J., Bitoun, P., Goldenberg, A., Philip, N., Odent, S., Green, J., Cossée, M., Davis, E. E., Katsanis, N., Bonneau, D., Verloes, A., Poch, O., Mandel, J. L., Dollfus, H.

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CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness von Astuto, L. M., Bork, J. M., Weston, M. D., Askew, J. W., Fields, R. R., Orten, D. J., Ohliger, S. J., Riazuddin, S., Morell, R. J., Khan, S., Riazuddin, S., Kremer, H., van Hauwe, P., Moller, C. G., Cremers, C. W. R. J., Ayuso, C., Heckenlively, J. R., Rohrschneider, K., Spandau, U., Greenberg, J., Ramesar, R., Reardon, W., Bitoun, P., Millan, J., Legge, R., Friedman, T. B., Kimberling, W. J.

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