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Research Output 2010 2019

2019

Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment

Schott, D. A., Stumpel, C. T. R. M. & Klaassens, M., Feb 2019, In : American Journal of Medical Genetics Part A. 179, 2, p. 219-223 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Reijnders, M. R. F., Miller, K. A., Alvi, M., Goos, J. A. C., Lees, M. M., de Burca, A., Henderson, A., Kraus, A., Mikat, B., de Vries, B. B. A., Isidor, B., Kerr, B., Marcelis, C., Schluth-Bolard, C., Deshpande, C., Ruivenkamp, C. A. L., Wieczorek, D., Baralle, D., Blair, E. M., Engels, H. & 30 others, Ludecke, H-J., Eason, J., Santen, G. W. E., Clayton-Smith, J., Chandler, K., Tatton-Brown, K., Payne, K., Helbig, K., Radtke, K., Nugent, K. M., Cremer, K., Strom, T. M., Bird, L. M., Sinnema, M., Bitner-Glindzicz, M., van Dooren, M. F., Alders, M., Koopmans, M., Brick, L., Kozenko, M., Harline, M. L., Klaassens, M., Steinraths, M., Cooper, N. S., Edery, P., Yap, P., Terhal, P. A., van der Spek, P. J., Stegmann, A. P. A. & Brunner, H. G., 7 Jun 2018, In : American Journal of Human Genetics. 102, 6, p. 1195-1203 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2015
6 Citations (Scopus)

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

Klaassens, M., Morrogh, D., Rosser, E. M., Jaffer, F., Vreeburg, M., Bok, L. A., Segboer, T., van Belzen, M., Quinlivan, R. M., Kumar, A., Hurst, J. A. & Scott, R. H., May 2015, In : European Journal of Human Genetics. 23, 5, p. 610-615

Research output: Contribution to journalArticleAcademicpeer-review

2012
11 Citations (Scopus)

Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood

Klaassens, M., Reinstein, E., Hilhorst-Hofstee, Y., Schrander, J. J. P., Malfait, F., Staal, H., ten Have, L. C., Blaauw, J., Roggeveen, H. C. J., Krakow, D., De Paepe, A., van Steensel, M. A. M., Pals, G., Graham, J. M. . J. & Schrander-Stumpel, C. T. R. M., Aug 2012, In : Clinical Genetics. 82, 2, p. 121-130

Research output: Contribution to journalArticleAcademicpeer-review

2010

Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation

Klaassens, M., Blom, E. W., Schrander, J. J. P., Ris-Stalpers, C., Kruseman, A. C. N., van Steensel, M. A. M. & Schrander-Stumpel, C. T. R. M., Mar 2010, In : British Journal of Dermatology. 162, 3, p. 690-694

Research output: Contribution to journalArticleAcademicpeer-review