Research output per year
Research output per year
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Dive into the research topics where Pernille M Tørring is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Researchers
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Research output
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Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing
Miceikaitė, I., Hao, Q., Brasch-Andersen, C., Fagerberg, C. R., Torring, P. M., Kristiansen, B. S., Ousager, L. B., Sperling, L., Ibsen, M. H., Löser, K. & Larsen, M. J., 1. May 2024, In: Obstetrical and Gynecological Survey. 79, 5, p. 261-263Research output: Contribution to journal › Comment/debate › Research › peer-review
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Deep Genome Sequencing Uncovers Extensive Genetic Heterogeneity in Early Human Placentas
Miceikaite, I., Fagerberg, C., Brasch-Andersen, C., Torring, P., Kristiansen, B. S., Hao, Q., Sperling, L. & Larsen, M., 1. Oct 2024, (In preparation)Research output: Other contribution › Research
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High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia
Kofoed, M. S., Tørring, P. M., Christensen, A. A., Lange, B., Kjeldsen, A. D. & Nielsen, T. H., Feb 2024, In: European Journal of Neurology. 31, 2, e16128.Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile22 Downloads (Pure) -
Comprehensive Noninvasive Fetal Screening by Deep Trio-Exome Sequencing
Miceikaitė, I., Hao, Q., Brasch-Andersen, C., Fagerberg, C. R., Torring, P. M., Kristiansen, B. S., Ousager, L. B., Sperling, L., Ibsen, M. H., Löser, K. & Larsen, M. J., 23. Nov 2023, In: The New England Journal of Medicine. 389, 21, p. 2017-2019Research output: Contribution to journal › Comment/debate › Research › peer-review
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Comprehensive prenatal diagnostics: Exome versus genome sequencing
Miceikaite, I., Fagerberg, C., Brasch-Andersen, C., Torring, P. M., Kristiansen, B. S., Hao, Q., Sperling, L., Ibsen, M. H., Löser, K., Bendsen, E. A., Ousager, L. B. & Larsen, M. J., Aug 2023, In: Prenatal Diagnosis. 43, 9, p. 1132-1141Research output: Contribution to journal › Journal article › Research › peer-review
Open AccessFile62 Downloads (Pure)
Activities
- 2 Talks and presentations in private or public companies
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Mutationer i ENG, ALK1 og SMAD4 blandt danske HHT patienter
Tørring, P. M. (Lecturer)
14. Apr 2011 → 15. Apr 2011Activity: Talks and presentations › Talks and presentations in private or public companies
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Homozygosity for a novel mutation in ENG discovered in a patient with HHT
Tørring, P. M. (Lecturer)
29. May 2009Activity: Talks and presentations › Talks and presentations in private or public companies
Projects
- 1 Finished
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RHINOLOGY and VASCULAR MALFORMATIONS: Genotyping and Gene Expression Profiling in Hereditary Haemorrhagic Telangiectasia
Tørring, P. M. (PhD student), Brusgaard, K. (Co-supervisor), Ousager, L. B. (Co-supervisor), Tan, Q. (Co-supervisor) & Kjeldsen, A. D. (Supervisor)
01/06/2010 → 29/08/2014
Project: PhD Project