Human Molecular Genetics, 0964-6906

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  1. Glycogen storage disease type 1a is associated with disturbed vitamin A metabolism and elevated serum retinol levels

    Saeed, A., Hoogerland, J. A., Wessel, H., Heegsma, J., Derks, T. G. J., Veer, E., Mithieux, G., Rajas, F., Oosterveer, M. H. & Faber, K. N., 15-Jan-2020, In : Human Molecular Genetics. 29, 2, p. 264-273 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Construction and benchmarking of a multi-ethnic reference panel for the imputation of HLA class I and II alleles

    Degenhardt, F., Wendorff, M., Wittig, M., Ellinghaus, E., Datta, L. W., Schembri, J., Ng, S. C., Rosati, E., Huebenthal, M., Ellinghaus, D., Jung, E. S., Lieb, W., Abedian, S., Malekzadeh, R., Cheon, J. H., Ellul, P., Sood, A., Midha, V., Thelma, B. K., Wong, S. H., Schreiber, S., Yamazaki, K., Kubo, M., Boucher, G., Rioux, J. D., Lenz, T. L., Brant, S. R. & Franke, A., 15-Jun-2019, In : Human Molecular Genetics. 28, 12, p. 2078-2092 15 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

    Cremers, F. P., van de Pol, D. J., van Driel, M., den Hollander, A. I., van Haren, F. J., Knoers, N. V., Tijmes, N., Bergen, A. A., Rohrschneider, K., Blankenagel, A., Pinckers, A. J., Deutman, A. F. & Hoyng, C. B., 1998, In : Human Molecular Genetics. 7, 3, p. 355-362 8 p.

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  4. Characterization of a recurrent 15q24 microdeletion syndrome

    Sharp, A. J., Selzer, R. R., Veltman, J. A., Gimelli, S., Gimelli, G., Striano, P., Coppola, A., Regan, R., Price, S. M., Knoers, N. V., Eis, P. S., Brunner, H. G., Hennekam, R. C., Knight, S. J. L., de Vries, B. B. A., Zuffardi, O. & Eichler, E. E., 2007, In : Human Molecular Genetics. 16, 5, p. 567-572 6 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Occupational exposure to gases/fumes and mineral dust affect DNA methylation levels of genes regulating expression

    BIOS Consortium, van der Plaat, D. A., Vonk, J. M., Terzikhan, N., de Jong, K., de Vries, M., La Bastide-van Gemert, S., van Diemen, C. C., Lahousse, L., Brusselle, G. G., Nedeljkovic, I., Amin, N., Kromhout, H., Vermeulen, R. C. H., Postma, D. S., van Duijn, C. M. & Boezen, H. M., 1-Aug-2019, In : Human Molecular Genetics. 28, 15, p. 2477-2485 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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