JOURNAL OF MEDICAL GENETICS, 0022-2593

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  1. Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: The challenge for the future guidelines

    Leuzzi, V., Chiarotti, F., Nardecchia, F., van Vliet, D. & van Spronsen, F. J., Feb-2020, In : JOURNAL OF MEDICAL GENETICS. 57, 2, p. 145-150 6 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  2. Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants

    Overbeek, K. A., Rodríguez-Girondo, M. D., Wagner, A., van der Stoep, N., van den Akker, P. C., Oosterwijk, J. C., van Os, T. A., van der Kolk, L. E., Vasen, H. F. A., Hes, F. J., Cahen, D. L., Bruno, M. J. & Potjer, T. P., 1-Jun-2020, In : JOURNAL OF MEDICAL GENETICS. 6 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

    van de Kamp, J. M., Lefeber, D. J., Ruijter, G. J. G., Steggerda, S. J., den Hollander, N. S., Willems, S. M., Matthijs, G., Poorthuis, B. J. H. M. & Wevers, R. A., Apr-2007, In : JOURNAL OF MEDICAL GENETICS. 44, 4, p. 277-280 4 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

    Bever, Y. V., Brüggenwirth, H. T., Wolffenbuttel, K. P., Dessens, A. B., Groenenberg, I. A. L., Knapen, M. F. C. M., De Baere, E., Cools, M., van Ravenswaaij-Arts, C. M. A., Sikkema-Raddatz, B., Claahsen-van der Grinten, H., Kempers, M., Rinne, T., Hersmus, R., Looijenga, L. & Hannema, S. E., 17-Apr-2020, In : JOURNAL OF MEDICAL GENETICS. 9 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  5. Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families

    Lakeman, I. M. M., Hilbers, F. S., Rodríguez-Girondo, M., Lee, A., Vreeswijk, M. P. G., Hollestelle, A., Seynaeve, C., Meijers-Heijboer, H., Oosterwijk, J. C., Hoogerbrugge, N., Olah, E., Vasen, H. F. A., van Asperen, C. J. & Devilee, P., Sep-2019, In : JOURNAL OF MEDICAL GENETICS. 56, 9, p. 581-589 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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