Hilde T. Hilmarsen

Skien, 3710, Norway

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 13 publications

Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype.

Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype.

Journal: Brain : a journal of neurology

Published: May 03, 2022

Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation.

Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation.

Journal: BMC neurology

Published: December 14, 2021

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.

Journal: Journal of medical genetics

Published: October 20, 2021

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

Journal: American journal of medical genetics. Part A

Published: July 15, 2020

Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene.

Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene.

Journal: International journal of dermatology

Published: July 14, 2020

Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene.

Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene.

Journal: Neuromuscular disorders : NMD

Published: August 07, 2019

Clinical exome sequencing – Norwegian findings.

Clinical exome sequencing – Norwegian findings.

Journal: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke

Published: November 05, 2015

Corrigendum to "Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing".

Corrigendum to "Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing".

Journal: BioMed research international

Published: September 08, 2015

Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India.

Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India.

Journal: Clinical case reports

Published: May 23, 2015

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

Journal: BioMed research international

Published: February 27, 2014

Variant-beta luteinizing hormone is not associated with poor ovarian response to controlled ovarian hyperstimulation.

Variant-beta luteinizing hormone is not associated with poor ovarian response to controlled ovarian hyperstimulation.

Journal: Reproductive biology and endocrinology : RB&E

Published: October 30, 2013

Increased risk of ovarian hyperstimulation syndrome following controlled ovarian hyperstimulation in patients with vascular endothelial growth factor +405 cc genotype.

Increased risk of ovarian hyperstimulation syndrome following controlled ovarian hyperstimulation in patients with vascular endothelial growth factor +405 cc genotype.

Journal: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology

Published: May 17, 2012

Showing 1-12 of 13

Last Updated: 09/26/2026