Thorkild Terkelsen

Arhus, Denmark

Last Updated: 09/26/2026

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Found 22 publications

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

Journal: American journal of human genetics

Published: February 09, 2026

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6.

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6.

Journal: Clinical genetics

Published: August 07, 2025

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Journal: Cancers

Published: April 02, 2025

Hailey-Hailey Disease Caused by a Novel Deep Intronic Variant in ATP2C1.

Hailey-Hailey Disease Caused by a Novel Deep Intronic Variant in ATP2C1.

Journal: American journal of medical genetics. Part A

Published: August 17, 2024

Orthogonal CRISPR systems for targeted integration and multiplex base editing enable nonviral engineering of allogeneic CAR-T cells.

Orthogonal CRISPR systems for targeted integration and multiplex base editing enable nonviral engineering of allogeneic CAR-T cells.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: August 16, 2024

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.

Journal: Clinical genetics

Published: June 27, 2024

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Title Not Found

Journal: Ugeskrift for laeger

Published: October 24, 2023

Characterization of the role of spatial proximity of DNA double-strand breaks in the formation of CRISPR-Cas9-induced large structural variations.

Characterization of the role of spatial proximity of DNA double-strand breaks in the formation of CRISPR-Cas9-induced large structural variations.

Journal: Genome research

Published: September 28, 2023

Author Correction: Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes.

Author Correction: Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes.

Journal: Scientific reports

Published: September 15, 2023

CRISPR activation to characterize splice-altering variants in easily accessible cells.

CRISPR activation to characterize splice-altering variants in easily accessible cells.

Journal: American journal of human genetics

Published: July 10, 2023

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.

Journal: Brain : a journal of neurology

Published: November 02, 2022

Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes.

Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes.

Journal: Scientific reports

Published: November 01, 2022

Showing 1-12 of 22

Last Updated: 09/26/2026