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A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase

Mero, Inger-Lise ; Orozco Rodriguez, Juan Manuel LU ; Bjørgo, Kathrine ; Hankin, Renee Alexandra ; Krupinska, Ewa LU ; Kulseth, Mari Ann ; Rossow, Marvin Anthony LU and Knecht, Wolfgang LU (2024) In Heliyon 10(19).
Please use this url to cite or link to this publication:
author
; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Heliyon
volume
10
issue
19
article number
e38659
publisher
Elsevier
external identifiers
  • scopus:85205387587
  • pmid:39430512
ISSN
2405-8440
DOI
10.1016/j.heliyon.2024.e38659
language
English
LU publication?
yes
id
3e735137-4e4c-4c70-8f41-3dfa0e820a4e
date added to LUP
2024-10-02 09:12:11
date last changed
2025-01-27 15:03:37
@article{3e735137-4e4c-4c70-8f41-3dfa0e820a4e,
  author       = {{Mero, Inger-Lise and Orozco Rodriguez, Juan Manuel and Bjørgo, Kathrine and Hankin, Renee Alexandra and Krupinska, Ewa and Kulseth, Mari Ann and Rossow, Marvin Anthony and Knecht, Wolfgang}},
  issn         = {{2405-8440}},
  language     = {{eng}},
  month        = {{09}},
  number       = {{19}},
  publisher    = {{Elsevier}},
  series       = {{Heliyon}},
  title        = {{A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase}},
  url          = {{http://dx.doi.org/10.1016/j.heliyon.2024.e38659}},
  doi          = {{10.1016/j.heliyon.2024.e38659}},
  volume       = {{10}},
  year         = {{2024}},
}