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Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
Efthymiou, S., Scala, M., Nagaraj, V., Ochenkowska, K., Komdeur, F. L., Liang, R. A., Abdel-Hamid, M. S., Sultan, T., Barøy, T., Van Ghelue, M., Vona, B., Maroofian, R., Zafar, F., Alkuraya, F. S., Zaki, M. S., Severino, M., Duru, K. C., Tryon, R. C., Brauteset, L. V., Ansari, M., & 9 others , 13 Jan 2024, (E-pub ahead of print) In: Brain.Research output: Contribution to journal › Article › Academic › peer-review
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Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study (The American Journal of Human Genetics (2022) 109(6) (1140–1152), (S0002929722002051), (10.1016/j.ajhg.2022.04.018))
Dutch NIPT Consortium, 7 Jul 2022, In: American journal of human genetics. 109, 7, p. 1344 1 p.Research output: Contribution to journal › Article › Academic › peer-review
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Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study
The Dutch NIPT Consortium & Dutch NIPT Consortium, 2 Jun 2022, In: American journal of human genetics. 109, 6, p. 1140-1152 13 p.Research output: Contribution to journal › Article › Academic › peer-review
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