Venselaar, Hanka

Human dectin-1 deficiency and mucocutaneous fungal infections

Ferwerda, B., Ferwerda, G., Plantinga, T. S., Willment, J. A., van Spriel, A. B., Venselaar, H., Elbers, C. C., Johnson, M. D., Cambi, A., Huysamen, C., et al. (2009) · New England Journal of Medicine

Immunodeficiency and Autoimmune DisordersAntifungal resistance and susceptibility

Cited by 752

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

Kleefstra, T., van Zelst-Stams, W. A., Nillesen, W. M., Cormier-Daire, V, Houge, G., Foulds, N., van Dooren, M., Willemsen, M. H., Pfundt, R., Turner, A., et al. (2009) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 252

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis

Cnossen, W. R., te Morsche, R. H. M., Hoischen, A., Gilissen, C., Chrispijn, M., Venselaar, H., Mehdi, S., Bergmann, C., Veltman, J. A., & Drenth, J. P. H. (2014) · Proceedings of the National Academy of Sciences

Genetic and Kidney Cyst DiseasesGenomics and Rare Diseases

Cited by 90

Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features

Vlasveld, L. T., Janssen, R., Bardou-Jacquet, E., Venselaar, H., Hamdi-Roze, H., Drakesmith, H., & Swinkels, D. W. (2019) · Pharmaceuticals

Iron Metabolism and DisordersNeurological diseases and metabolism

Cited by 57

Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin

van den Bogaard, E. H. J., van Geel, M., van Vlijmen-Willems, I. M. J. J., Jansen, P. A. M., Peppelman, M., van Erp, P. E. J., Atalay, S., Venselaar, H., Simon, M. E. H., Joosten, M., et al. (2019) · Genetics in Medicine

Hair Growth and DisordersGenetic and rare skin diseases.

Cited by 18