Tue Diemer
Aalborg, Denmark
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant.
Journal: European journal of medical genetics
Published: June 20, 2023
Preimplantation genetic testing in two Danish couples affected by Peutz-Jeghers syndrome.
Journal: Scandinavian journal of gastroenterology
Published: October 06, 2022
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Journal: Brain : a journal of neurology
Published: July 23, 2021
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Journal: Human molecular genetics
Published: June 23, 2021
A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?
Journal: Acta obstetricia et gynecologica Scandinavica
Published: October 15, 2019
Showing 1-9 of 9
Last Updated: 09/26/2026