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DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
van der Laan, L., Lauffer, P., Rooney, K., Silva, A., Haghshenas, S., Relator, R., Levy, M. A., Trajkova, S., Huisman, S. A., Bijlsma, E. K., Kleefstra, T., van Bon, B. W., Baysal, Ö., Zweier, C., Palomares-Bralo, M., Fischer, J., Szakszon, K., Faivre, L., Piton, A., Mesman, S., & 14 others, 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, p. 100289 100289.Research output: Contribution to journal › Article › Academic › peer-review
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Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1
Verdonk, S. J. E., Storoni, S., Zhytnik, L., Zhong, W., Pals, G., van Royen, B. J., Elting, M. W., Maugeri, A., Eekhoff, E. M. W. & Micha, D., Aug 2023, In: Calcified tissue international. 113, 2, p. 186-194 9 p.Research output: Contribution to journal › Article › Academic › peer-review
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The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
INSERM–Necker Hospital NPH collaborative group, Aug 2023, In: Kidney International. 104, 2, p. 378-387 10 p.Research output: Contribution to journal › Article › Academic › peer-review
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