Pernille M Tørring

MD

20112019
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Fingerprint 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.

  • 17 Similar Profiles
Mutation Medicine & Life Sciences
Lung Medicine & Life Sciences
Yin-Yang Medicine & Life Sciences
Long Noncoding RNA Medicine & Life Sciences
Haploinsufficiency Medicine & Life Sciences
Microcephaly Medicine & Life Sciences
Epistaxis Medicine & Life Sciences
Gastrointestinal Neoplasms Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2011 2019

41 Downloads (Pure)

A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly

Ree, R., Geithus, A. S., Tørring, P. M., Sørensen, K. P., Damkjær, M., Lynch, S. A. & Arnesen, T., 7. Jun 2019, In : BMC Medical Genetics. 20, 8 p., 101.

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Microcephaly
Acetylation
Acetyl Coenzyme A
Enzymes and Coenzymes
Exome

Glomuvenøse malformationer

Translated title of the contribution: Glomuvenous malformationsBrix, A. T. H., Tørring, P. M., Kamaleswaran, S., Kjeldsen, A. D., Kjærskov, M. W. & Bygum, A., 2019, In : Ugeskrift for Laeger. 181, 22, V10180740.

Research output: Contribution to journalJournal articleResearchpeer-review

Palpation
Skin

Glomuvenøse malformationer kan være meget smertefulde og medføre diagnostiske vanskeligheder

Translated title of the contribution: Glomuvenous malformations can be very painful and cause diagnostic challengesBrix, A. T. H., Tørring, P. M., Kamaleswaran, S., Gad, D. & Bygum, A., 2019, In : Ugeskrift for Laeger. 181, 22, V10180735.

Research output: Contribution to journalJournal articleResearchpeer-review

Skin Diseases
55 Downloads (Pure)

Is MED13L-related intellectual disability a recognizable syndrome?

Tørring, P. M., Larsen, M. J., Brasch-Andersen, C., Krogh, L. N., Kibæk, M., Laulund, L., Illum, N., Dunkhase-Heinl, U., Wiesener, A., Popp, B., Marangi, G., Hjortshøj, T. D., Ek, J., Vogel, I., Becher, N., Roos, L., Zollino, M. & Fagerberg, C. R., Feb 2019, In : European Journal of Medical Genetics. 62, 2, p. 129-136

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Macrostomia
Macroglossia
Language Development Disorders
Foramen Ovale
Exome
87 Downloads (Pure)

Comorbidity among HHT patients and their controls in a 20 years follow-up period

Aagaard, K. S., Kjeldsen, A. D., Tørring, P. M. & Green, A., 14. Dec 2018, In : Orphanet Journal of Rare Diseases. 13, 9 p., 223.

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
Comorbidity
Incidence
Joints
International Classification of Diseases
Insurance Benefits

Activities 2009 2011

  • 2 Talks and presentations in private or public companies

Mutationer i ENG, ALK1 og SMAD4 blandt danske HHT patienter

Pernille M Tørring (Lecturer)
14. Apr 201115. Apr 2011

Activity: Talks and presentationsTalks and presentations in private or public companies

Homozygosity for a novel mutation in ENG discovered in a patient with HHT

Pernille M Tørring (Lecturer)
29. May 2009

Activity: Talks and presentationsTalks and presentations in private or public companies