Mari A. Kulseth

Oslo, Norway

Last Updated: 09/26/2026

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Found 21 publications

Biallelic SUPT4H1 variants cause a multisystem neurodevelopmental disorder associated with disrupted transcription.

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.

A new loss-of-function variant in SCN1A is associated with early-onset complex febrile seizures.

Journal: Seizure

Published: June 23, 2025

Vocal Cord Paresis and Neuropathic Pain in Infantile Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Case Report.

Vocal Cord Paresis and Neuropathic Pain in Infantile Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Case Report.

Journal: Case reports in neurology

Published: May 19, 2025

A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase.

A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase.

Journal: Heliyon

Published: June 06, 2024

Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.

Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.

Journal: Orphanet journal of rare diseases

Published: April 12, 2024

Correspondence on "Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants" by Vogel et al.

Correspondence on "Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants" by Vogel et al.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 25, 2023

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Journal: Human molecular genetics

Published: June 19, 2022

A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT.

A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT.

Journal: Journal of clinical immunology

Published: May 12, 2021

A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.

A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.

Journal: Human mutation

Published: July 16, 2020

Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.

Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.

Journal: European journal of human genetics : EJHG

Published: June 08, 2020

Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.

Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.

Journal: BMC medical genetics

Published: March 31, 2018

Whole-exome sequencing for diagnosis of hereditary ichthyosis.

Whole-exome sequencing for diagnosis of hereditary ichthyosis.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: November 29, 2017

Showing 1-12 of 21

Last Updated: 09/26/2026