Amsterdam Reproduction & Development

Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants (Genetics in Medicine, (2019), 21, 4, (850-860), 10.1038/s41436-018-0259-2)

The DDD Study, 1 Nov 2020, In: Genetics in medicine. 22, 11, p. 1920 1 p.

Research output: Contribution to journal › Comment/Letter to the editor* › Academic

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Pennings, M., Schouten, M. I., van Gaalen, J., Meijer, R. P. P., de Bot, S. T., Kriek, M., Saris, C. G. J., van den Berg, L. H., van Es, M. A., Zuidgeest, D. M. H., Elting, M. W., van de Kamp, J. M., van Spaendonck-Zwarts, K. Y., Die-Smulders, C. D., Brilstra, E. H., Verschuuren, C. C., de Vries, B. B. A., Bruijn, J., Sofou, K. & Duijkers, F. A. & 4 others, Jaeger, B., Schieving, J. H., van de Warrenburg, B. P. & Kamsteeg, E.-J., 1 Jan 2020, In: European journal of human genetics. 28, 1, p. 40-49 10 p., 31488895.

Research output: Contribution to journal › Article* › Academic › peer-review

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: Update on genetic testing in the NGS era

Stuurman, K. E., Joosten, M., van der Burgt, I., Elting, M., Yntema, H. G., Meijers-Heijboer, H. & Rinne, T., 1 Oct 2019, In: Journal of medical genetics. 56, 10, p. 654-661

Research output: Contribution to journal › Article* › Academic › peer-review