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

by Katrine Saldern Aagaard, Anette Drøhse Kjeldsen, Pernille Mathiesen Tørring, Anders Green
Published 2018-12-01

20-year follow-up study of Danish HHT patients—survival and causes of death

by Anette Kjeldsen, Katrine Saldern Aagaard, Pernille Mathiesen Tørring, Sören Möller, Anders Green
Published 2016-11-01

Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death

by Ieva Miceikaite, Geske Sidsel Bak, Martin Jakob Larsen, Britta Schlott Kristiansen, Pernille Mathiesen Torring
Published 2021-07-01

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

by Rasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Mads Damkjær, DDD study, Sally Ann Lynch, Thomas Arnesen
Published 2019-06-01