Accès ouvert
2026
article
OpenAlex
Katrine M. Johannesen, Karen Grønskov, Line Kessel, Sarah Linéa von Holstein et autres
Hereditary optic atrophy is characterized by degeneration of retinal ganglion cells and may result from a wide range of genetic etiologies. While pathogenic variants in OPA1 and primary mitochondrial variants causing Leber hereditary optic neuropathy (LHON) account for a substantial proportion of …
dk, fr
(code pays fourni par la source)
2026
article
OpenAlex
Line Kessel, Mette KG Andersen, Karen Grønskov, M L Bertelsen
PURPOSE: To provide the first comprehensive, overview of the Danish Family Archive for Genetic Eye Diseases, a national umbrella registry on inherited eye disorders initiated in 1985. METHODS: A cross-sectional extraction of entries collected over 40 years was performed on 1 May …
dk
(code pays fourni par la source)
Accès ouvert
2023
conference-abstract
OpenAlex
Kilian Vomstein, Pia Egerup, Astrid Marie Kolte, I Behrendt-Møller et autres
Abstract Study question What are the differences in menstrual blood lymphocytes between controls, patients with recurrent pregnancy loss (RPL) or with unexplained infertility (uINF)? Summary answer Compared with controls, RPL- and uINF patients had a different menstrual blood immune profile, including altered …
dk, at
(code pays fourni par la source)