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Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene
de Vries, R. J., Jaeger, B., Hellebrekers, D. M. E. I., Reneman, L., Verhamme, C., Smeets, H. J. M., van Maarle, M. C., de Visser, M. & Bleeker, F. E., 1 Jul 2021, In: Clinical neurology and neurosurgery. 206, 106637.Research output: Contribution to journal › Article* › Academic › peer-review
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Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging
Deden, C., Neveling, K., Zafeiropopoulou, D., Gilissen, C., Pfundt, R., Rinne, T., de Leeuw, N., Faas, B., Gardeitchik, T., Sallevelt, S. C. E. H., Paulussen, A., Stevens, S. J. C., Sikkel, E., Elting, M. W., van Maarle, M. C., Diderich, K. E. M., Corsten-Janssen, N., Lichtenbelt, K. D., Lachmeijer, G. & Vissers, L. E. L. M. & 4 others, , 1 Jul 2020, In: Prenatal diagnosis. 40, 8, p. 972-983 12 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Cytogenetic testing of pregnancy loss tissue: a meta-analysis
Smits, M. A. J., van Maarle, M., Hamer, G., Mastenbroek, S., Goddijn, M. & van Wely, M., Jun 2020, In: Reproductive biomedicine online. 40, 6, p. 867-879 13 p.Research output: Contribution to journal › Review article* › Academic › peer-review
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