Allan T. Hojland

Aalborg, Denmark

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 13 publications

Constitutional methylation of the MLH1 promoter: a case series including tumors not typically caused by Lynch Syndrome.

Constitutional methylation of the MLH1 promoter: a case series including tumors not typically caused by Lynch Syndrome.

Journal: European journal of human genetics : EJHG

Published: January 24, 2026

Cholesteryl ester storage disease-a rare case of elevated liver enzymes and cholesterol levels with similarities to familial hypercholesterolaemia: a case report.

Cholesteryl ester storage disease-a rare case of elevated liver enzymes and cholesterol levels with similarities to familial hypercholesterolaemia: a case report.

Journal: European heart journal. Case reports

Published: December 18, 2025

Infant Born With Autosomal Recessive Glycogen Storage Disease Type IV due to Complete Maternal Isodisomy of Chromosome 3.

Infant Born With Autosomal Recessive Glycogen Storage Disease Type IV due to Complete Maternal Isodisomy of Chromosome 3.

Journal: Case reports in genetics

Published: November 09, 2023

A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.

A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.

Journal: Human genetics

Published: April 30, 2021

First reported CABP2-related non-syndromic hearing loss in Northern Europe.

First reported CABP2-related non-syndromic hearing loss in Northern Europe.

Journal: Molecular genetics & genomic medicine

Published: June 11, 2020

Audiological and Vestibular Findings in Subjects with MELAS Syndrome.

Audiological and Vestibular Findings in Subjects with MELAS Syndrome.

Journal: The journal of international advanced otology

Published: July 27, 2019

Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report.

Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report.

Journal: Human reproduction (Oxford, England)

Published: March 26, 2019

Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome.

Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome.

Journal: European journal of medical genetics

Published: March 26, 2019

First reported adult patient with TARP syndrome: A case report.

First reported adult patient with TARP syndrome: A case report.

Journal: American journal of medical genetics. Part A

Published: May 25, 2018

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: November 06, 2017

The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.

The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.

Journal: Molecular syndromology

Published: September 08, 2015

Surfactant protein D is a candidate biomarker for subclinical tobacco smoke-induced lung damage.

Surfactant protein D is a candidate biomarker for subclinical tobacco smoke-induced lung damage.

Journal: American journal of physiology. Lung cellular and molecular physiology

Published: March 11, 2014

Showing 1-12 of 13

Last Updated: 09/26/2026