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Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Glinton, K. E., Hurst, A. C. E., Bowling, K. M., Cristian, I., Haynes, D., Adstamongkonkul, D., Schnappauf, O., Beck, D. B., Brewer, C., Parikh, A. S., Shinde, D. N., Donaldson, A., Brautbar, A., Koene, S., van Haeringen, A., Piton, A., Capri, Y., Furlan, M., Gardella, E. & Møller, R. S. & 28 others, , May 2021, In: American journal of medical genetics. Part A. 185, 5, p. 1366-1378 13 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia
Reeskamp, L. F., Balvers, M., Peter, J., van de Kerkhof, L., Klaaijsen, L. N., Motazacker, M. M., Grefhorst, A., van Riel, N. A. W., Hovingh, G. K., Defesche, J. C. & Zuurbier, L., 1 Mar 2021, In: Atherosclerosis. 321, p. 14-20 7 p.Research output: Contribution to journal › Article* › Academic › peer-review
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ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia
Reeskamp, L. F., Volta, A., Zuurbier, L., Defesche, J. C., Hovingh, G. K. & Grefhorst, A., 1 Mar 2020, In: Journal of clinical lipidology. 14, 2, p. 207-217.e7Research output: Contribution to journal › Article* › Academic › peer-review
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