American Journal of Medical Genetics, 0148-7299

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  1. Cognitive and psychosocial functioning of patients with congenital nephrogenic diabetes insipidus

    Hoekstra, J. A., van Lieburg, A. F., Monnens, L. A., Hulstijn-Dirkmaat, G. M. & Knoers, V. V. A. M., 2-Jan-1996, In : American Journal of Medical Genetics. 61, 1, p. 81-88 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis

    Hamel, B. C., Smits, A. P., van den Helm, B., Smeets, D. F., Knoers, N. V., van Roosmalen, T., Thoonen, G. H., Assman-Hulsmans, C. F., Ropers, H. H., Mariman, E. C. & Kremer, H., 30-Jul-1999, In : American Journal of Medical Genetics. 85, 3, p. 290-304 15 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region

    Yntema, H. G., van den Helm, B., Knoers, N. V., Smits, A. P., van Roosmalen, T., Smeets, D. F., Mariman, E. C., van der Burgt, I., van Bokhoven, H., Ropers, H. H., Kremer, H. & Hamel, B. C., 30-Jul-1999, In : American Journal of Medical Genetics. 85, 3, p. 305-308 4 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Meier-Gorlin syndrome: Report of eight additional cases and review

    Bongers, E. M., Opitz, J. M., Fryer, A., Sarda, P., Hennekam, R. C., Hall, B. D., Superneau, D. W., Harbison, M., Poss, A., van Bokhoven, H., Hamel, B. C. & Knoers, N. V. A. M., 1-Aug-2001, In : American Journal of Medical Genetics. 102, 2, p. 115-124 10 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  5. Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia

    Bongers, E. M. H. F., van Bokhoven, H., Knoers, N. V., Hamel, B. C. J. & Woods, C. G., 15-Feb-2002, In : American Journal of Medical Genetics. 108, 1, p. 78-79 2 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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