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A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia

American journal of human genetics, 2010-11, Vol.87 (5), p.721-727

2010

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

European journal of medical genetics, 2021-09, Vol.64 (9), p.104280-104280, Article 104280

2021

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Is MED13L-related intellectual disability a recognizable syndrome?

European journal of medical genetics, 2019-02, Vol.62 (2), p.129-136

2019

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Parents' assessments of disability in their children using WHO ICF-CY joined body functions and activity codes related to everyday life

European journal of paediatric neurology, 2017-06, Vol.21, p.e203-e203

2017

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The Nordic Five to Fifteen questionnaire could provide the basis for a common neurological disability variable

Acta Paediatrica, 2014-08, Vol.103 (8), p.879-885

2014

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Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine

European journal of medical genetics, 2023-03, Vol.66 (3), p.104706-104706, Article 104706

2023

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

Clinical genetics, 2022-02, Vol.101 (2), p.208-213

2022

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Creating a Disability Variable for Children with Disability Using the WHO ICF-CY Classification System

British journal of applied science & technology, 2015-01, Vol.11 (1), p.1-19

2015

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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 of neuromuscular diseases, 2024-03, Vol.11 (2), p.443-457

2024

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Parents’ Assessment of Disability in Their Children With Down Syndrome

Child neurology open, 2020-01, Vol.7, p.2329048X20934248-2329048X20934248

2020

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

Danish medical journal, 2016-06, Vol.63 (6)

2016

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

Child neurology open, 2015-10, Vol.2 (4), p.2329048X15613529-2329048X15613529

2015

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Positive experience with intrathecal baclofen treatment in children with severe cerebral palsy

Danish medical journal, 2015-01, Vol.62 (1), p.A4999

2015

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

Clinical medicine insights. Pediatrics, 2018, Vol.12, p.1179556518784948-1179556518784948

2018

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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

Clinical medicine insights. Pediatrics, 2017, Vol.11, p.1179556517715037-1179556517715037

2017

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ParentsâTM 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

Clinical medicine insights. Pediatrics, 2017-06, Vol.2017 (11)

2017

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Spinal cord injury at birth: a hidden causative factor

Acta Paediatrica, 2008-06, Vol.97 (6), p.824-826

2008

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Recurrent nodular haemangiomas in Klippel‐Tréaunay syndrome

Acta Paediatrica, 1992-05, Vol.81 (5), p.456-458

1992

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Neurofibroma of the larynx in a nine month-old child

Ugeskrift for læger, 2011-10, Vol.173 (42), p.2653

2011

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Bisphosphonate treatment of children and adolescents

Ugeskrift for læger, 2003-01, Vol.165 (5), p.454

Illum, Niels O

2003

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Oesteogenesis imperfecta--genetics, diagnosis and medical treatment

Ugeskrift for læger, 2007-01, Vol.169 (1), p.30

2007

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Rhizotomy for children with severe spastic cerebral palsy

Ugeskrift for læger, 2006-02, Vol.168 (8), p.785

2006

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Symptoms and time to diagnosis in children with brain tumours

Danish medical bulletin, 2011-07, Vol.58 (7), p.A4285

2011

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Human red cell Aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia

The Journal of clinical investigation, 1994-09, Vol.94 (3), p.1050-1058

1994

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Intrathecal baclofen in the treatment of severe spastic tetraplegia and dystonia in children and adolescents

Ugeskrift for læger, 2003-04, Vol.165 (17), p.1755

2003

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A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia

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

Is MED13L-related intellectual disability a recognizable syndrome?

Parents' assessments of disability in their children using WHO ICF-CY joined body functions and activity codes related to everyday life

The Nordic Five to Fifteen questionnaire could provide the basis for a common neurological disability variable

Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine

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

Creating a Disability Variable for Children with Disability Using the WHO ICF-CY Classification System

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

Parents’ Assessment of Disability in Their Children With Down Syndrome

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

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

Positive experience with intrathecal baclofen treatment in children with severe cerebral palsy

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

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

ParentsâTM 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

Spinal cord injury at birth: a hidden causative factor

Recurrent nodular haemangiomas in Klippel‐Tréaunay syndrome

Neurofibroma of the larynx in a nine month-old child

Bisphosphonate treatment of children and adolescents

Oesteogenesis imperfecta--genetics, diagnosis and medical treatment

Rhizotomy for children with severe spastic cerebral palsy

Symptoms and time to diagnosis in children with brain tumours

Human red cell Aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia

Intrathecal baclofen in the treatment of severe spastic tetraplegia and dystonia in children and adolescents

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