Paul H. Backe
Oslo, 0316, Norway
Last Updated: 09/26/2026
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Found 31 publications
The RecBCD complex interacts directly with the DNA sliding clamp in Escherichia coli.
Journal: Nucleic acids research
Published: August 25, 2025
Biallelic SUPT4H1 variants cause a multisystem neurodevelopmental disorder associated with disrupted transcription.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 15, 2025
A new loss-of-function variant in SCN1A is associated with early-onset complex febrile seizures.
Journal: Seizure
Published: June 23, 2025
Characterization of a novel factor X variant, p.F139L, associated with bleedings in heterozygous and compound heterozygous form.
Journal: Thrombosis research
Published: May 22, 2025
A monoallelic UXS1 variant associated with short-limbed short stature.
Journal: Molecular genetics & genomic medicine
Published: January 19, 2024
The role of PGM1isoform 2 in PGM1-CDG: One step closer to genotype-phenotype correlation?
Journal: Journal of inherited metabolic disease
Published: February 27, 2023
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Journal: Brain : a journal of neurology
Published: July 15, 2022
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Journal: Brain : a journal of neurology
Published: March 31, 2021
Molecular Characterization of Two Homozygous Factor VII Variants Associated with Intracranial Bleeding.
Journal: Thrombosis and haemostasis
Published: March 19, 2021
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.
Journal: Human molecular genetics
Published: January 13, 2021
Non-flipping DNA glycosylase AlkD scans DNA without formation of a stable interrogation complex.
Journal: Communications biology
Published: October 01, 2020
Last Updated: 09/26/2026