1. De Novo Variants in KLF7 are a Potential Novel Cause of Developmental Delay/Intellectual Disability, Neuromuscular and Psychiatric Symptoms

    Powis, Z., Petrik, I., Cohen, J. S., Escolar, D., Burton, J., van Ravenswaaij-Arts, C. M. A., Sival, D. A., Stegmann, A. P. A., Kleefstra, T., Pfundt, R., Chikarmane, R., Begtrup, A., Huether, R., Tang, S. & Shinde, D. N. 18-Dec-2017 (Accepted/In press) In : Clinical Genetics. 29 p.

    Research output: Scientific - peer-reviewArticle

  2. Cerebellar Vermis and Midbrain Hypoplasia Upon Conditional Deletion of Chd7 from the Embryonic Mid-Hindbrain Region

    Donovan, A. P. A., Yu, T., Ellegood, J., Riegman, K. L. H., de Geus, C., van Ravenswaaij-Arts, C., Fernandes, C., Lerch, J. P. & Basson, M. A. 4-Oct-2017 In : Frontiers in neuroanatomy. 11, 9 p., 86

    Research output: Scientific - peer-reviewArticle

  3. Chromosomal abnormalities in 1663 infertile men with azoospermia: The clinical consequences

    Donker, R. B., Vloeberghs, V., Groen, H., Tournaye, H., van Ravenswaaij-Arts, C. M. A. & Land, J. A. 1-Dec-2017 In : Human Reproduction. 32, 12, p. 2574-2580 7 p.

    Research output: Scientific - peer-reviewArticle

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