EJHG, 1018-4813

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  1. Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees

    van den Heuvel, L. M., Huisinga, M. J., Hoedemaekers, Y. M., Baas, A. F., Plantinga, M., Henneman, L., van Tintelen, J. P., Smets, E. M. A. & Christiaans, I., Sep-2019, In : European Journal of Human Genetics. 27, 9, p. 1341-1350 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

    Labrijn-Marks, I., Somers-Bolman, G. M., Groen, S. L. M. I., Hoogeveen-Westerveld, M., Kroos, M. A., Ala-Mello, S., Amaral, O., Miranda, C. S., Mavridou, I., Michelakakis, H., Naess, K., Verheijen, F. W., Hoefsloot, L. H., Dijkhuizen, T., Benjamins, M., van den Hout, H. J. M., van der Ploeg, A. T., Pijnappel, W. W. M. P., Saris, J. J. & Halley, D. J., Jun-2019, In : European Journal of Human Genetics. 27, 6, p. 919-927 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome

    Silahtaroglu, A., Hol, F. A., Jensen, P. K., Erdel, M., Duba, H. C., Geurds, M. P., Knoers, N. V., Mariman, E. C., Tümer, Z., Utermann, G., Wirth, J., Bugge, M. & Tommerup, N., Jan-1999, In : EJHG. 7, 1, p. 68-76 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene

    Weber, S., Hoffmann, K., Jeck, N., Saar, K., Boeswald, M., Kuwertz-Broeking, E., Meij, I. I., Knoers, N. V., Cochat, P., Suláková, T., Bonzel, K. E., Soergel, M., Manz, F., Schaerer, K., Seyberth, H. W., Reis, A. & Konrad, M., Jun-2000, In : EJHG. 8, 6, p. 414-22 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

    Terhal, P. A., Vlaar, J. M., Middelkamp, S., Nievelstein, R. A. J., Nikkels, P. G. J., Ross, J., Créton, M., Bos, J. W., Voskuil-Kerkhof, E. S. M., Cuppen, E., Knoers, N. & L I van Gassen, K., 2019, In : EJHG.

    Research output: Contribution to journalArticleAcademicpeer-review

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