Lisbeth B. Moller

Division Of Noncommunicable Diseases And Promoting Health Through The Life Course
Marmorvej, Denmark

Last Updated: 09/26/2026

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Found 47 publications

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy.

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy.

Journal: Clinical genetics

Published: May 11, 2026

Normalization of Fetal Cerebral and Hepatic Iron by Parental Iron Therapy to Pregnant Rats with Systemic Iron Deficiency without Anemia.

Normalization of Fetal Cerebral and Hepatic Iron by Parental Iron Therapy to Pregnant Rats with Systemic Iron Deficiency without Anemia.

Journal: Nutrients

Published: August 09, 2024

Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort.

Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort.

Journal: Genes

Published: December 29, 2022

Ethics in pre-ART genetics: a missed X-linked Menkes disease case.

Ethics in pre-ART genetics: a missed X-linked Menkes disease case.

Journal: Journal of assisted reproduction and genetics

Published: October 20, 2022

Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia.

Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia.

Journal: Cold Spring Harbor molecular case studies

Published: July 16, 2022

Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10).

Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10).

Journal: BMJ case reports

Published: March 08, 2022

Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia.

Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia.

Journal: Cerebellum (London, England)

Published: July 16, 2021

Editorial: The Neurodietetics and Genetics of Copper and Iron.

Editorial: The Neurodietetics and Genetics of Copper and Iron.

Journal: Frontiers in molecular neuroscience

Published: June 08, 2021

BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.

BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.

Journal: International journal of molecular sciences

Published: December 30, 2020

Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15.

Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15.

Journal: Frontiers in molecular neuroscience

Published: October 14, 2020

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.

Journal: Genes

Published: September 28, 2020

The Mortality After Release from Incarceration Consortium (MARIC): Protocol for a multi-national, individual participant data meta-analysis.

The Mortality After Release from Incarceration Consortium (MARIC): Protocol for a multi-national, individual participant data meta-analysis.

Journal: International journal of population data science

Published: September 16, 2020

Showing 1-12 of 47

Last Updated: 09/26/2026