Human Molecular Genetics, 0964-6906

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  1. A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency

    Al-Shekaili, H. H., Petkau, T. L., Pena, I., Lengyell, T. C., Verhoeven-Duif, N. M., Ciapaite, J., Bosma, M., van Faassen, M., Kema, I. P., Horvath, G., Ross, C., Simpson, E. M., Friedman, J. M., van Karnebeek, C. & Leavitt, B. R., 25-Nov-2020, In : Human Molecular Genetics. 29, 19, p. 3266-3284 19 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Genetics and geography of leukocyte telomere length in sub-Saharan Africans

    Hunt, S. C., Hansen, M. E. B., Verhulst, S., McQuillan, M. A., Beggs, W., Lai, T-P., Mokone, G. G., Mpoloka, S. W., Meskel, D. W., Belay, G., Nyambo, T. B., Abnet, C. C., Yeager, M., Chanock, S. J., Province, M. A., Williams, S. M., Aviv, A. & Tishkoff, S. A., 15-Sep-2020, In : Human Molecular Genetics. 29, 18, p. 3014-3020 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Understanding human gut diseases at single-cell resolution

    Bigaeva, E., Uniken Venema, W. T. C., Weersma, R. K. & Festen, E. A. M., 15-Sep-2020, In : Human Molecular Genetics. 29, R1, p. R51-R58 8 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  4. 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

  5. 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

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