JOURNAL OF MEDICAL GENETICS, 0022-2593

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  1. 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

  2. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

    Almomani, R., Herkert, J. C., Posafalvi, A., Post, J. G., Boven, L. G., van der Zwaag, P. A., Willems, P. H. G. M., van Veen-Hof, I. H., Verhagen, J. M. A., Wessels, M. W., Nikkels, P. G. J., Wintjes, L. T., van den Berg, M. P., Sinke, R. J., Rodenburg, R. J., Niezen-Koning, K. E., van Tintelen, J. P. & Jongbloed, J. D. H., 7-Sep-2019, In : JOURNAL OF MEDICAL GENETICS. 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome

    Bongers, E. M., Van Bokhoven, H., Van Thienen, M. N., Kooyman, M. A., Van Beersum, S. E., Boetes, C., Knoers, N. V. & Hamel, B. C., 2001, In : JOURNAL OF MEDICAL GENETICS. 38, 3, p. 209-14 6 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  4. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

    Koolen, D. A., Nillesen, W. M., Versteeg, M. H. A., Merkx, G. F. M., Knoers, N. V. A. M., Kets, M., Vermeer, S., van Ravenswaaij, C. M. A., de Kovel, C. G., Brunner, H. G., Smeets, D., de Vries, B. B. A. & Sistermans, E. A., Dec-2004, In : JOURNAL OF MEDICAL GENETICS. 41, 12, p. 892-9 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis

    de Leeuw, N., Pfundt, R., Koolen, D. A., Neefs, I., Scheltinga, I., Mieloo, H., Sistermans, E. A., Nillesen, W., Smeets, D. F., de Vries, B. B. A. & Knoers, N. V. A. M., Feb-2008, In : JOURNAL OF MEDICAL GENETICS. 45, 2, p. 122-4 3 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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