Marijke Van Ghelue

Tromso, 9019, Norway

Last Updated: 09/26/2026

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Found 24 publications

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

Journal: Brain : a journal of neurology

Published: June 25, 2023

Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.

Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.

Journal: BMC cancer

Published: January 25, 2023

Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.

Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.

Journal: Genes

Published: December 14, 2022

Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).

Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).

Journal: Neuromuscular disorders : NMD

Published: February 22, 2022

Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency.

Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency.

Journal: JIMD reports

Published: December 19, 2021

BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.

BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.

Journal: Familial cancer

Published: July 03, 2021

Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene.

Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene.

Journal: Neuromuscular disorders : NMD

Published: June 23, 2021

Detection of Quebec Polyomavirus DNA in Samples from Different Patient Groups.

Detection of Quebec Polyomavirus DNA in Samples from Different Patient Groups.

Journal: Microorganisms

Published: May 03, 2021

HPyV6 and HPyV7 in urine from immunocompromised patients.

HPyV6 and HPyV7 in urine from immunocompromised patients.

Journal: Virology journal

Published: December 03, 2020

Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Journal: Scientific reports

Published: September 02, 2019

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.

Journal: Nature communications

Published: January 31, 2019

Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.

Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.

Journal: Human genomics

Published: August 31, 2018

Showing 1-12 of 24

Last Updated: 09/26/2026