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Lou, S., Jensen, A. H., Vogel, I., Trolle, B. & Herlin, M. K. (2024). Understanding the diagnostic odyssey of women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in Denmark: a qualitative interview study. Journal of Pediatric and Adolescent Gynecology. Advance online publication. https://doi.org/10.1016/j.jpag.2024.03.003

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Markholt, S., Andreassen, L., Bjerre, J. V., Gregersen, P. A. & Andersen, B. N. (2023). Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2. European Journal of Medical Genetics, 66(2), Article 104695. https://doi.org/10.1016/j.ejmg.2023.104695

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Trouillard, O., Dupaigne, P., Dunoyer, M., Doulazmi, M., Herlin, M. K., Frismand, S., Riou, A., Legros, V., Chevreux, G., Veaute, X., Busso, D., Fouquet, C., Saint-Martin, C., Méneret, A., Trembleau, A., Dusart, I., Dubacq, C. & Roze, E. (2023). Congenital mirror movements are associated with defective polymerisation of RAD51. Journal of Medical Genetics, 60(11), 1116-1126. Article jmg-2023-109189. https://doi.org/10.1136/jmg-2023-109189

Gregersen, P. A., Funding, M., Alsner, J., Olsen, M. H., Overgaard, J., Urbak, S. F., Staffieri, S. E. & Lou, S. (2023). Danish heritable retinoblastoma survivors' perspectives on reproductive choices: “It's important for me, not to pass on this condition”. Journal of Genetic Counseling, 32(1), 31-42. https://doi.org/10.1002/jgc4.1618

Ryland, G., Umeda, M., Holmfeldt, L., Lehmann, S., Herlin, M. K., Ma, J. J., Khanlari, M., Rubnitz, J. E., Ries, R. E., Kosasih, H. J., Ekert, P. G., Goh, H. N., Tiong, I. S., Grimmond, S. M., Haferlach, C., Day, R. B., Ley, T. J., Meshinchi, S., Ma, X. ... Klco, J. M. (2023). Description of a novel subtype of acute myeloid leukemia defined by recurrent CBFB insertions. Blood, 141(7), 800-805. https://doi.org/10.1182/blood.2022017874

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Skakkebæk, A., Kjær-Sørensen, K., Matchkov, V. V., Christensen, L. L., Just, J., Cömert, C., Andersen, N. H., Oxvig, C. & Gravholt, C. H. (2023). Dosage of the pseudoautosomal gene SLC25A6 is implicated in QTc interval duration. Scientific Reports, 13(1), Article 12089. https://doi.org/10.1038/s41598-023-38867-3

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