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Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly
Patrick Rump, omid Jazayeri, Krista K. Van Dijk-Bos, Lennart F. Johansson, Anthonie J. van Essen, Birgit Sikkema-Raddatz, Richard J. Sinke, Conny M.A. van Ravenswaaij-Arts, Behrooz Z. Alizadeh, Morris A. Swertz, Marcel M. A. M. Mannens, Egbert J. W. Redeker, Hermine E. Veenstra-Knol, Johanna B. G. M. Verheij
(2016)
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A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD)
omid Jazayeri, Xuanzhu Liu, Cleo C. Van Diemen, Willie M. Bakker-van Waarde, Birgit Sikkema-Raddatz, Conny M.A. van Ravenswaaij-Arts, Jianguo Zhang, Richard J. Sinke
(2015)
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