Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Pernille Mathiesen Tørring

Showing results (11-20 of 24) with videos related to

Pageof 3
Sort By:
Ugeskrift for Laeger|May 20, 2022
[Cutaneous capillary malformations with cerebral implementation]Anna Trier Heiberg Brix, Pernille Mathiesen Tørring, Anette Drøhse Kjeldsen, et al.
BMC Medical Genetics|June 9, 2019
A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephalyRasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, et al.
Clinical Case Reports|June 8, 2017
Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasiaPernille Mathiesen Tørring, Mathilde Faurholdt Lauridsen, Christine I Dali, et al.
Clinical Neurology and Neurosurgery|February 19, 2026
Cerebral vascular malformation screening in hereditary hemorrhagic telangiectasia: Balancing low diagnostic yield against high-risk hemorrhageMikkel Seremet Kofoed, Pernille Mathiesen Tørring, Alex Alban Christensen, et al.
Ugeskrift for Laeger|May 17, 2021
[Screening for cerebral arteriovenous malformations in patients with hereditary haemorrhagic telangiectasia]Simon Kjær Simonsen, Troels Halfeld Nielsen, Rikke Beese Dalby, et al.
Clinical Neurology and Neurosurgery|April 8, 2026
When findings hurt: Mental health effects of cerebral MRI screening in patients with Hereditary Hemorrhagic TelangiectasiaMikkel Seremet Kofoed, Pernille Mathiesen Tørring, Alex Alban Christensen, et al.
Ugeskrift for Laeger|June 20, 2025
[Hereditary haemorrhagic telangeiectasia]Kumanan Rune Nanthan, Pernille Mathiesen Tørring, Jens Kjeldsen, et al.
Endoscopy International Open|December 19, 2022
Distinct gastric phenotype in patients with pathogenic variants in <i>SMAD4:</i> A nationwide cross-sectional studyAnne Marie Jelsig, Niels Qvist, Birgitte Bertelsen, et al.
European Journal of Human Genetics : EJHG|October 30, 2025
Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasiaPernille Darre Haahr, Qin Hao, Klaus Brusgaard, et al.
Familial Cancer|June 24, 2023
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide studyAnne Marie Jelsig, Thomas van Overeem Hansen, Lene Bjerring Gede, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
Ugeskrift for Laeger|May 20, 2022
[Cutaneous capillary malformations with cerebral implementation]Anna Trier Heiberg Brix, Pernille Mathiesen Tørring, Anette Drøhse Kjeldsen, et al.
BMC Medical Genetics|June 9, 2019
A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephalyRasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, et al.
Clinical Case Reports|June 8, 2017
Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasiaPernille Mathiesen Tørring, Mathilde Faurholdt Lauridsen, Christine I Dali, et al.
Clinical Neurology and Neurosurgery|February 19, 2026
Cerebral vascular malformation screening in hereditary hemorrhagic telangiectasia: Balancing low diagnostic yield against high-risk hemorrhageMikkel Seremet Kofoed, Pernille Mathiesen Tørring, Alex Alban Christensen, et al.
Ugeskrift for Laeger|May 17, 2021
[Screening for cerebral arteriovenous malformations in patients with hereditary haemorrhagic telangiectasia]Simon Kjær Simonsen, Troels Halfeld Nielsen, Rikke Beese Dalby, et al.
Clinical Neurology and Neurosurgery|April 8, 2026
When findings hurt: Mental health effects of cerebral MRI screening in patients with Hereditary Hemorrhagic TelangiectasiaMikkel Seremet Kofoed, Pernille Mathiesen Tørring, Alex Alban Christensen, et al.
Ugeskrift for Laeger|June 20, 2025
[Hereditary haemorrhagic telangeiectasia]Kumanan Rune Nanthan, Pernille Mathiesen Tørring, Jens Kjeldsen, et al.
Endoscopy International Open|December 19, 2022
Distinct gastric phenotype in patients with pathogenic variants in <i>SMAD4:</i> A nationwide cross-sectional studyAnne Marie Jelsig, Niels Qvist, Birgitte Bertelsen, et al.
European Journal of Human Genetics : EJHG|October 30, 2025
Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasiaPernille Darre Haahr, Qin Hao, Klaus Brusgaard, et al.
Familial Cancer|June 24, 2023
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide studyAnne Marie Jelsig, Thomas van Overeem Hansen, Lene Bjerring Gede, et al.
Pageof 3