Research output per year
Research output per year
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Dive into the research topics where Stense Farholt is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Clinical Characteristics and Management of Children and Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas in Denmark: A Nationwide Study
Ejerskov, C., Farholt, S., Nielsen, F. S. K., Berg, I., Thomasen, S. B., Udupi, A., Ågesen, T., de Fine Licht, S. & Handrup, M. M., 2023, In: Oncology and therapy. 11, 1, p. 97-110 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures
Sølyst, S., Oksjoki, R., Farholt, S., Nielsen, D. G., Christensen, A. H., Fagerberg, C. R., Risom, L., Gregersen, P. A., Christensen, M. B., Rasmussen, T. B. & Diness, B. R., Sep 2022, In: Clinical Genetics. 102, 3, p. 191-200 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
van der Sluijs, P. J., Joosten, M., Alby, C., Attié-Bitach, T., Gilmore, K., Dubourg, C., Fradin, M., Wang, T., Kurtz-Nelson, E. C., Ahlers, K. P., Arts, P., Barnett, C. P., Ashfaq, M., Baban, A., van den Born, M., Borrie, S., Busa, T., Byrne, A., Carriero, M., Cesario, C., & 35 others, Aug 2022, In: Genetics in medicine : official journal of the American College of Medical Genetics. 24, 8, p. 1753-1760 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
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A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency
Lundquist, A. A., Farholt, S., Børresen, M. L., Dunø, M., Wibrand, F., Witting, N. & Østergaard, E., Oct 2021, In: European Journal of Medical Genetics. 64, 10, p. 104306 104306.Research output: Contribution to journal › Journal article › Research › peer-review
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Management of a DAVF in a Patient with Loeys-Dietz Syndrome Type II: Case Report and Overview of the Literature
Dahl, R. H., Farholt, S., Hauerberg, J., Poulsgaard, L. & Benndorf, G., Sep 2021, In: Clinical Neuroradiology. 31, 3, p. 871-874 4 p.Research output: Contribution to journal › Letter › peer-review