Johanna van Hagen

Research output

Research output per year 2001 2005 2008 2009 2010 2012 2015 2018 2020 2021 2023 2024

• 54 Article
• 3 Comment/Letter to the editor
• 3 Review article

Research output per year

Research output per year

Search results

• 2007

  Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification

  van Hagen, J. M., Eussen, H. J. F. M. M., van Schooten, R., van Der Geest, J. N., Lagers-van Haselen, G. C., Wouters, C. H., De Zeeuw, C. I. & Gille, J. J. P., 2007, In: Genetic testing. 11, 3, p. 321-7 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  15 Citations (Scopus)

• Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome

  van Hagen, J. M., van der Geest, J. N., van der Giessen, R. S., Lagers-van Haselen, G. C., Eussen, H. J. F. M. M., Gille, J. J. P., Govaerts, L. C. P., Wouters, C. H., de Coo, I. F. M., Hoogenraad, C. C., Koekkoek, S. K. E., Frens, M. A., van Camp, N., van der Linden, A., Jansweijer, M. C. E., Thorgeirsson, S. S. & de Zeeuw, C. I., Apr 2007, In: Neurobiology of Disease. 26, 1, p. 112-124 13 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  63 Citations (Scopus)
• 2006

  Regional underreporting of associated congenital anomalies in cleft patients in the Netherlands

  van der Veen, F. J. C., van Hagen, J. M., Berkhof, J. & Don Griot, J. P. W., Nov 2006, In: Cleft palate-craniofacial journal. 43, 6, p. 710-4 5 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  15 Citations (Scopus)
• 2005

  Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature

  de Ru, M. H., Gille, J. J. P., Nieuwint, A. W. M., Bijlsma, J. B., van der Blij, J. F. & van Hagen, J. M., 15 Aug 2005, In: American Journal of Medical Genetics Part A. 137, 1, p. 81-7 7 p.

  Research output: Contribution to journal › Review article › Academic › peer-review
  35 Citations (Scopus)

• R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia

  Bökenkamp, A., deJong, M., van Wijk, J. A., Block, D., van Hagen, J. M. & Ludwig, M., Dec 2005, In: Pediatric Nephrology. 20, 12, p. 1724-1728 5 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  17 Citations (Scopus)

• Van gen naar ziekte; basaalcelnaevussyndroom

  Translated title of the contribution: From gene to disease: basal cell naevus syndromede Meij, T. G. J., Baars, M. J. H., Gille, J. J. P., Hack, W. W. M., Haasnoot, K. & van Hagen, J. M., 8 Jan 2005, In: Nederlands Tijdschrift voor Geneeskunde. 149, 2, p. 78-81 4 p.

  Research output: Contribution to journal › Article › Professional

  7 Citations (Scopus)

• Van gen naar ziekte; EVC, EVC2 en Ellis-Van Creveld-syndroom

  Translated title of the contribution: From gene to disease; EVC, EVC2, and Ellis-van Creveld syndromevan Hagen, J. M., Baart, J. A. & Gille, J. J. P., 23 Apr 2005, In: Nederlands Tijdschrift voor Geneeskunde. 149, 17, p. 929-931 3 p.

  Research output: Contribution to journal › Article › Professional

  2 Citations (Scopus)
• 2004

  A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer

  Menko, F. H., Kaspers, G. L., Meijer, G. A., Claes, K., van Hagen, J. M. & Gille, J. J. P., 2004, In: Familial Cancer. 3, 2, p. 123-7 5 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  68 Citations (Scopus)

• Clinical presentations of patients with polyol abnormalities

  Huck, J. H. J., Verhoeven, N. M., Van Hagen, J. M., Jakobs, C. & Van Der Knaap, M. S., Jun 2004, In: Neuropediatrics. 35, 3, p. 167-173 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  10 Citations (Scopus)
• 2001

  Williams-syndroom: nieuwe inzichten in genetische etiologie, pathogenese en kliniek

  Translated title of the contribution: Williams syndrome: new insights into genetic etiology, pathogenesis and clinical aspectsvan Hagen, J. M., Govaerts, L. C., de Coo, I. F., Gille, J. J., Nieuwint, A. W. & Madan, K., 3 Mar 2001, In: Nederlands Tijdschrift voor Geneeskunde. 145, 9, p. 396-400 5 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  3 Citations (Scopus)