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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Drivas, T. G., Li, D., Nair, D., Alaimo, J. T., Alders, M., Altmüller, J., Barakat, T. S., Bebin, E. M., Bertsch, N. L., Blackburn, P. R., Blesson, A., Bouman, A. M., Brockmann, K., Brunelle, P., Burmeister, M., Cooper, G. M., Denecke, J., Dieux-Coëslier, A., Dubbs, H. & Ferrer, A. & 45 others, , 1 Oct 2020, In: European journal of human genetics. 28, 10, p. 1422-1431 10 p.Research output: Contribution to journal › Article* › Academic › peer-review
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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, , 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
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De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment
DOOFNL Consortium, 11 Jan 2019, In: Human genetics. 138, 1, p. 61-72 12 p.Research output: Contribution to journal › Article* › Academic › peer-review
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