Mieke van Haelst

DR.

20172019
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Research Output 2017 2019

Extensive Phenotyping for Potential Weight-Inducing Factors in an Outpatient Population with Obesity

Savas, M., Wester, V. L., Visser, J. A., Kleinendorst, L., van der Zwaag, B., van Haelst, M. M., van den Akker, E. L. T. & van Rossum, E. F. C., 2019, In : Obesity Facts. p. 369-384

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Fountain, M. D., Oleson, D. S., Rech, M. E., Segebrecht, L., Hunter, J. V., McCarthy, J. M., Lupo, P. J., Holtgrewe, M., Moran, R., Rosenfeld, J. A., Isidor, B., le Caignec, C. D., Saenz, M. S., Pedersen, R. C., Morgan, T. M., Pfotenhauer, J. P., Xia, F., Bi, W., Kang, S-H. L., Patel, A. & 36 othersKrantz, I. D., Raible, S. E., Smith, W., Cristian, I., Torti, E., Juusola, J., Millan, F., Wentzensen, I. M., Person, R. E., Küry, S. B., Bézieau, S., Uguen, K. V., Férec, C., Munnich, A., van Haelst, M., Lichtenbelt, K. D., van Gassen, K., Hagelstrom, T., Chawla, A., Perry, D. L., Taft, R. J., Jones, M., Masser-Frye, D., Dyment, D., Venkateswaran, S., Li, C., Escobar, L. F., Horn, D., Spillmann, R. C., Peña, L., Wierzba, J., Strom, T. M., Parenti, I., Kaiser, F. J., Ehmke, N. & Schaaf, C. P., 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticleAcademicpeer-review

Stüve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway

van de Maele, K., Smulders, C., Ecury-Goossen, G., Rosina-Angelista, I., Redeker, E. & van Haelst, M., 2019, In : Clinical Dysmorphology. 28, 2, p. 57-62

Research output: Contribution to journalArticleAcademicpeer-review

Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element

Bouman, A., van Haelst, M. & van Spaendonk, R., 2018, In : Clinical Dysmorphology. 27, 2, p. 58-62

Research output: Contribution to journalArticleAcademicpeer-review

Cantú syndrome, the changing phenotype: A report of the two oldest Dutch patients

Roessler, H. I., Volker-Touw, C. M. L., Terhal, P. A., van Haaften, G. & van Haelst, M. M., 2018, In : Clinical Dysmorphology. 27, 3, p. 78-83

Research output: Contribution to journalArticleAcademicpeer-review