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Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach
van den Berg, G., Claus, L. R., van der Zwaag, B., Lakeman, P., Kaasenbrood, L., Sayer, J. A., Lilien, M. R. & van Eerde, A. M., 1 Aug 2024, In: Nephron. 148, 8, p. 569-577 9 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Perceptions of reproductive healthcare providers regarding their involvement in offering expanded carrier screening in fertility clinics: a qualitative study
Klein, D., van Dijke, I., van Langen, I. M., Dondorp, W., Lakeman, P., Henneman, L. & Cornel, M. C., 1 Jul 2024, In: Reproductive biomedicine online. 49, 1, 103857.Research output: Contribution to journal › Article* › Academic › peer-review
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The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
Vos, N., Haghshenas, S., van der Laan, L., Russel, P. K. M., Rooney, K., Levy, M. A., Relator, R., Kerkhof, J., McConkey, H., Maas, S. M., Vissers, L. E. L. M., de Vries, B. B. A., Pfundt, R., Elting, M. W., van Hagen, J. M., Verbeek, N. E., Jongmans, M. C. J., Lakeman, P., Rumping, L. & Bosch, D. G. M. & 40 others, , 1 Jun 2024, In: Human Genetics. 143, 6, p. 761-773 13 p.Research output: Contribution to journal › Article* › Academic › peer-review
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