Johanna van Hagen



Research output per year

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Research Output

  • 34 Article
  • 4 Review article
  • 1 Comment/Letter to the editor

Lack of genotype-phenotype correlation in basal cell nevus syndrome: A Dutch multicenter retrospective cohort study

Cosgun, B., Reinders, M. G. H. C., van Geel, M., Steijlen, P. M., van Hout, A. F. W., Leter, E. M., van der Smagt, J. J., van Hagen, J. M., Berger, L. P. V., Kets, C. M., Wagner, A., Aalfs, C. M., Hes, F. J., van der Kolk, L. E., Gille, J. J. P. & Mosterd, K., 1 Jan 2020, (Accepted/In press) In : Journal of the American Academy of Dermatology.

Research output: Contribution to journalArticleAcademicpeer-review

Myotonic dystrophy presenting as severely dilated cardiomyopathy with out-of-hospital cardiac arrest

Isrie, M., Wong, L., van Hagen, J. M. & Houweling, A. C., 1 Jan 2019, In : Netherlands Heart Journal. 27, 1, p. 54-55 2 p.

Research output: Contribution to journalComment/Letter to the editorAcademic

Open Access

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

Vlaskamp, D. R. M., Shaw, B. J., Burgess, R., Mei, D., Montomoli, M., Xie, H., Myers, C. T., Bennett, M. F., Xiangwei, W., Williams, D., Maas, S. M., Brooks, A. S., Mancini, G. M. S., van de Laar, I. M. B. H., van Hagen, J. M., Ware, T. L., Webster, R. I., Malone, S., Berkovic, S. F., Kalnins, R. M. & 8 others, Sicca, F., Korenke, G. C., van Ravenswaaij-Arts, C. M. A., Hildebrand, M. S., Mefford, H. C., Jiang, Y., Guerrini, R. & Scheffer, I. E., 8 Jan 2019, In : Neurology. 92, 2, p. E96-E107

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Ghosh, S. G., Becker, K., Huang, H., Dixon-Salazar, T., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., Akpulat, U., Weiss, M. M., Efthymiou, S., Hanna, M. G., Minetti, C., Striano, P., Pisciotta, L., de Grandis, E. & 19 others, Altmüller, J., Nürnberg, P., Thiele, H., Yis, U., Okur, T. D., Polat, A. I., Amiri, N., Doosti, M., Karimani, E. G., Toosi, M. B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J. M., Wolf, N. I., Maroofian, R., Houlden, H., Cirak, S. & Gleeson, J. G., 2018, In : American journal of human genetics. 103, 3, p. 431-439

Research output: Contribution to journalArticleAcademicpeer-review

Open Access