Publications by authors named "Tue Diemer"

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Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant.
Kasper V Seiersen, Tine B Henriksen, Ted C K Andelius, Lotte Andreasen, Tue Diemer

Eur J Med Genet· February 2024

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Preimplantation genetic testing in two Danish couples affected by Peutz-Jeghers syndrome.
Anna Byrjalsen, Laura Roos, Tue Diemer, John Gásdal Karstensen, Kristine Løssl

Scand J Gastroenterol· March 2023

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Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Philip K Ahring, Vivian W Y Liao, Elena Gardella, Katrine M Johannesen, Ilona Krey, Tue Diemer

Brain· May 2022

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Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Wen-Qiang Zheng, Signe Vandal Pedersen, Kyle Thompson, Emanuele Bellacchio, Courtney E French, Tue Diemer

Hum Mol Genet· February 2022

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Patients' choices and opinions on chorionic villous sampling and non-invasive alternatives for prenatal testing following preimplantation genetic testing for hereditary disorders: A cross-sectional questionnaire study.
Christian L F Toft, Tue Diemer, Hans J Ingerslev, Inge S Pedersen, Stine W Adrian

Prenat Diagn· February 2022

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[Preimplantation genetic testing].
Kristina Løssl, Jane Gasseholm Bentzen, Morten Rønn Petersen, Laura Sønderberg Roos, Kristín Rós Kjartansdóttir, Tue Diemer

Ugeskr Laeger· November 2021

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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?
Christian Liebst Frisk Toft, Hans Jakob Ingerslev, Ulrik Schiøler Kesmodel, Tue Diemer, Birte Degn

Acta Obstet Gynecol Scand· June 2020

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[Preimplantation genetic testing for aneuploidy].
Viktoria Holmqvist, Laura Kristine Soenderberg Roos, Kristin Ros Kjartansdottir, Morten Dunø, Morten Rønn Petersen, Tue Diemer

Ugeskr Laeger· May 2019

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[Preimplantation genetic diagnosis].
Hans Jakob Ingerslev, Birte Degn, Christina Hnida, Tue Diemer, Michael Bjørn Petersen

Ugeskr Laeger· April 2018

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A method for estimation of plasma albumin concentration from the buffering properties of whole blood.
Stephen E Rees, Tue Diemer, Søren Risom Kristensen

J Crit Care· October 2012

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