Quinten Waisfisz

Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy

Al-Saady, M. L., Kaiser, C. S., Wakasuqui, F., Korenke, G. C., Waisfisz, Q., Polstra, A., Pouwels, P. J. W., Bugiani, M., van der Knaap, M. S., Lunsing, R. J., Liebau, E. & Wolf, N. I., 1 Dec 2021, In: Neuropediatrics. 52, 6, p. 489-494 6 p.

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

Dynamic clonal hematopoiesis and functional T-cell immunity in a supercentenarian

van den Akker, E. B., Makrodimitris, S., Hulsman, M., Brugman, M. H., Nikolic, T., Bradley, T., Waisfisz, Q., Baas, F., Jakobs, M. E., de Jong, D., Slagboom, P. E., Staal, F. J. T., Reinders, M. J. T. & Holstege, H., Jul 2021, In: Leukemia. 35, 7, p. 2125-2129 5 p.

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

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Undiagnosed Diseases Network, Apr 2021, In: Genetics in medicine. 23, 4, p. 740-750 11 p.

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

Specialization

Focus of research

Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy

Dynamic clonal hematopoiesis and functional T-cell immunity in a supercentenarian

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Quinten Waisfisz

Specialization

Focus of research

Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy

Dynamic clonal hematopoiesis and functional T-cell immunity in a supercentenarian

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

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