1 - 10 out of 42Page size: 10
  1. 2023

  2. Counseling couples at risk of having a child with homozygous familial hypercholesterolemia – Clinical experience and recommendations

    Tromp, T. R., Reijman, M. D., Wiegman, A., Hovingh, G. K., Defesche, J. C., van Maarle, M. C. & Mathijssen, I. B., 2023, (E-pub ahead of print) In: Journal of clinical lipidology.

    Research output: Contribution to journal › Article › Academic › peer-review

  3. 2022

  4. De novo variants in the PABP domain of PABPC1 lead to developmental delay

    Wegler, M., Jia, X., Alders, M., Bouman, A., Chen, J., Duan, X., Lauzon, J. L., Mathijssen, I. B., Sticht, H., Syrbe, S., Tan, S., Guo, H. & Abou Jamra, R., Aug 2022, In: Genetics in medicine. 24, 8, p. 1761-1773 13 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  5. Erratum: Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms(Genet Med (2021)23(103-110)(s41436020009394)(10.1038/s41436-020-00939-4))

    van Walree, E. S., Dombrowsky, G., Jansen, I. E., Umićević Mirkov, M., Zwart, R., Ilgun, A., Guo, D., Clur, S-A. B., Amin, A. S., Savage, J. E., van der Wal, A. C., Waisfisz, Q., Maugeri, A., Wilsdon, A., Bu'Lock, F. A., Hurles, M. E., Dittrich, S., Berger, F., Audain Martinez, E., Christoffels, V. M., & 6 othersHitz, M-P., Milewicz, D. M., Posthuma, D., Meijers-Heijboer, H., Postma, A. V. & Mathijssen, I. B., 1 Apr 2022, In: Genetics in medicine. 24, 4, p. 965 1 p.

    Research output: Contribution to journal › Comment/Letter to the editor › Academic

  6. Patient-Specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction

    van Ouwerkerk, A. F., Bosada, F. M., van Duijvenboden, K., Houweling, A. C., Scholman, K. T., Wakker, V., Allaart, C. P., Uhm, J-S., Mathijssen, I. B., Baartscheer, T., Postma, A. V., Barnett, P., Verkerk, A. O., Boukens, B. J. & Christoffels, V. M., 22 Feb 2022, In: Circulation. 145, 8, p. 606-619 14 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  7. Gerimpelde handpalmen na contact met water

    Mathijssen, I. B., Knijnenburg, P. J. C. & Melger, J., 2022, In: Nederlands tijdschrift voor geneeskunde. 166, p. D6724

    Research output: Contribution to journal › Article › Professional

  8. 2021

  9. Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes

    Wyrwoll, M. J., van Walree, E. S., Hamer, G., Rotte, N., Motazacker, M. M., Meijers-Heijboer, H., Alders, M., Meißner, A., Kaminsky, E., Wöste, M., Krallmann, C., Kliesch, S., Hunt, T. J., Clark, A. T., Silber, S., Stallmeyer, B., Friedrich, C., van Pelt, A. M. M., Mathijssen, I. B. & Tüttelmann, F., 27 Dec 2021, In: Human reproduction (Oxford, England). 37, 1, p. 178-189 12 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  10. Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer

    van Dijke, I., Lakeman, P., Sabiri, N., Rusticus, H., Ottenheim, C. P. E., Mathijssen, I. B., Cornel, M. C. & Henneman, L., Aug 2021, In: European journal of human genetics. 29, 8, p. 1252-1258 7 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  11. TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

    University of Washington Center for Mendelian Genomics, 14 Jan 2021, In: Human Genetics and Genomics Advances. 2, 1, 100016.

    Research output: Contribution to journal › Article › Academic › peer-review

  12. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

    van Walree, E. S., Dombrowsky, G., Jansen, I. E., Mirkov, M. U., Zwart, R., Ilgun, A., Guo, D., Clur, S-A. B., Amin, A. S., Savage, J. E., van der Wal, A. C., Waisfisz, Q., Maugeri, A., Wilsdon, A., Bu’Lock, F. A., Hurles, M. E., Dittrich, S., Berger, F., Audain Martinez, E., Christoffels, V. M., & 6 othersHitz, M-P., Milewicz, D. M., Posthuma, D., Meijers-Heijboer, H., Postma, A. V. & Mathijssen, I. B., Jan 2021, In: Genetics in medicine. 23, 1, p. 103-110 8 p.

    Research output: Contribution to journal › Article › Academic › peer-review

  13. How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples

    van Dijke, I., Lakeman, P., Mathijssen, I. B., Goddijn, M., Cornel, M. C. & Henneman, L., Jan 2021, In: European journal of human genetics. 29, 1, p. 39-50 12 p.

    Research output: Contribution to journal › Article › Academic › peer-review

Previous 1 2 3 4 5 Next

ID: 72413