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Balle, C. M., Lildballe, D. L., Bedei, I., Luschka, R., Skakkebæk, A., Chang, S., Agirman, Z., Keller, J., Weber, A., Schäfer, R. E., Becker-Follmann, J. & Gravholt, C. H. (2025). Reliable detection of sex chromosome abnormalities by quantitative fluorescence polymerase chain reaction. Clinical Chemistry and Laboratory Medicine, 63(8), 1519-1527. https://doi.org/10.1515/cclm-2024-1400
Balle, C. M., Nørgaard, S. M., Baggesgaard, C. M. B., Valsted, L. B., Viuff, M. H., Naeraa, R. W., Dueholm, M., Jakobsen, M. C. R., Bache, I., Kristensen, S. G., Fischer, M. B., Hansen, D., Main, K. M., Pedersen, A. T., Hagen, C. P. & Gravholt, C. H. (2025). The Danish Turner Syndrome Cryopreservation study: PROTOCOL for a prospective cohort Study on reproductive outcomes after ovarian tissue cryopreservation in girls with Turner syndrome. Orphanet Journal of Rare Diseases, 20(1), Article 587. https://doi.org/10.1186/s13023-025-04104-5
Bedei, I., Bruder, J., Lund, I. C. B., Thomsen, S. H., Vogel, I., Maciel-Guerra, A. T., Alvarez-Nava, F., Crenshaw, M. L., Axt-Fliedner, R., Gravholt, C. H. & Skakkebæk, A. (2025). Non-Invasive Prenatal Testing by Cell-Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 199(2), 124-133. https://doi.org/10.1002/ajmg.c.32136