Niels O. Illum

Odense, Denmark

Last Updated: 09/26/2026

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Found 15 publications

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Journal: Clinical genetics

Published: January 28, 2026

Burden of Disease of Duchenne Muscular Dystrophy in Denmark - A National Register-Based Study of Individuals with Duchenne Muscular Dystrophy and their Closest Relatives.

Burden of Disease of Duchenne Muscular Dystrophy in Denmark - A National Register-Based Study of Individuals with Duchenne Muscular Dystrophy and their Closest Relatives.

Journal: Journal of neuromuscular diseases

Published: January 13, 2024

Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine.

Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine.

Journal: European journal of medical genetics

Published: March 08, 2022

Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.

Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.

Journal: Clinical genetics

Published: September 07, 2021

Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.

Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.

Journal: European journal of medical genetics

Published: December 07, 2020

Parents' Assessment of Disability in Their Children With Down Syndrome.

Parents' Assessment of Disability in Their Children With Down Syndrome.

Journal: Child neurology open

Published: November 16, 2019

Is MED13L-related intellectual disability a recognizable syndrome?

Is MED13L-related intellectual disability a recognizable syndrome?

Journal: European journal of medical genetics

Published: February 24, 2018

Parents' Expressions of Concerns and Hopes for the Future and Their Concomitant Assessments of Disability in Their Children.

Parents' Expressions of Concerns and Hopes for the Future and Their Concomitant Assessments of Disability in Their Children.

Journal: Clinical medicine insights. Pediatrics

Published: December 07, 2017

Muscular response to the first three months of deflazacort treatment in boys with Duchenne muscular dystrophy.

Muscular response to the first three months of deflazacort treatment in boys with Duchenne muscular dystrophy.

Journal: Journal of musculoskeletal & neuronal interactions

Published: June 03, 2017

Parents' Assessments of Disability in Their Children Using World Health Organization International Classification of Functioning, Disability and Health, Child and Youth Version Joined Body Functions and Activity Codes Related to Everyday Life.

Parents' Assessments of Disability in Their Children Using World Health Organization International Classification of Functioning, Disability and Health, Child and Youth Version Joined Body Functions and Activity Codes Related to Everyday Life.

Journal: Clinical medicine insights. Pediatrics

Published: February 11, 2017

Environmental needs in childhood disability analysed by the WHO ICF, Child and Youth Version.

Environmental needs in childhood disability analysed by the WHO ICF, Child and Youth Version.

Journal: Danish medical journal

Published: June 07, 2016

Assessing Children With Disabilities Using WHO International Classification of Functioning, Disability and Health Child and Youth Version Activities and Participation D Codes.

Assessing Children With Disabilities Using WHO International Classification of Functioning, Disability and Health Child and Youth Version Activities and Participation D Codes.

Journal: Child neurology open

Published: August 25, 2015

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Last Updated: 09/26/2026