Elsebet Østergaard (Elsebet Ostergaard)

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 6

Top Topics

Intellectual Disability

Mitochondrial Dna

Top Venues

Journal of medical genetics

Human molecular genetics

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

This page only lists publications with an associated author ORCID identifier.

Publications

Frederikke Guldberg, Carl Christian Larsen, Elsebet Østergaard, Jonathan Frederik Carlsen, Marianne Juhler, Tina Nørgaard Munch
Prenatal dispositions and genetic analysis of monozygotic female twins with suprasellar cysts and hydrocephalus: A case report. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (2023)
Olivia Sarah Strandbech, Allan Lund, Elsebet Østergaard
Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia. JIMD reports 59 (1) (2021)
Kristoffer Björkman, John Vissing, Elsebet Østergaard, Laurence A Bindoff, Irenaeus F M de Coo, Martin Engvall, Omar Hikmat, Pirjo Isohanni, Gittan Kollberg, Christopher Lindberg, Kari Majamaa, Karin Naess, Johanna Uusimaa, Mar Tulinius, Niklas Darin
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. Journal of medical genetics (2021)
Morten Alstrup, Ida Vogel, Puk Sandager, Jenny Blechingberg, Naja H Becher, Elsebet Østergaard
A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses. JIMD reports 59 (1) (2021)
Wen-Qiang Zheng, Signe Vandal Pedersen, Kyle Thompson, Emanuele Bellacchio, Courtney E French, Benjamin Munro, Toni S Pearson, Julie Vogt, Daria Diodato, Tue Diemer, Anja Ernst, Rita Horvath, Manali Chitre, Jakob Ek, Flemming Wibrand, Dorothy K Grange, F Lucy Raymond, Xiao-Long Zhou, Robert W Taylor, Elsebet Østergaard
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease. Human molecular genetics (2021)
Anna M H Madsen, Flemming Wibrand, Allan M Lund, Jakob Ek, Morten Dunø, Elsebet Østergaard
Genotype and phenotype classification of 29 patients affected by Krabbe disease. JIMD reports 46 (1) (2019)