Detalles de la búsqueda
1.
Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.
Clin Genet
; 101(2): 208-213, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34708403
2.
The Nordic Five to Fifteen questionnaire could provide the basis for a common neurological disability variable.
Acta Paediatr
; 103(8): 879-85, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24799045
3.
Burden of Disease of Duchenne Muscular Dystrophy in Denmark - A National Register-Based Study of Individuals with Duchenne Muscular Dystrophy and their Closest Relatives.
J Neuromuscul Dis
; 11(2): 443-457, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38217608
4.
A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.
Am J Hum Genet
; 87(5): 721-7, 2010 Nov 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-21055716
5.
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine.
Eur J Med Genet
; 66(3): 104706, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36669590
6.
Symptoms and time to diagnosis in children with brain tumours.
Dan Med Bull
; 58(7): A4285, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21722538
7.
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
Eur J Med Genet
; 64(9): 104280, 2021 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-34229113
8.
Parents' Assessment of Disability in Their Children With Down Syndrome.
Child Neurol Open
; 7: 2329048X20934248, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32596412
9.
Is MED13L-related intellectual disability a recognizable syndrome?
Eur J Med Genet
; 62(2): 129-136, 2019 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-29959045
10.
Parents' Expressions of Concerns and Hopes for the Future and Their Concomitant Assessments of Disability in Their Children.
Clin Med Insights Pediatr
; 12: 1179556518784948, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30046263
11.
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.
Clin Med Insights Pediatr
; 11: 1179556517715037, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28680270
12.
Environmental needs in childhood disability analysed by the WHO ICF, Child and Youth Version.
Dan Med J
; 63(6)2016 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-27264942
13.
Assessing Children With Disabilities Using WHO International Classification of Functioning, Disability and Health Child and Youth Version Activities and Participation D Codes.
Child Neurol Open
; 2(4): 2329048X15613529, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-28503598
14.
Positive experience with intrathecal baclofen treatment in children with severe cerebral palsy.
Dan Med J
; 62(1): A4999, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25557334
15.
[Intrathecal baclofen in the treatment of severe spastic tetraplegia and dystonia in children and adolescents]. / Intratekal baclofenbehandling ved svaer spastisk tetraplegi og dystoni hos børn og unge.
Ugeskr Laeger
; 165(17): 1755-9, 2003 Apr 21.
Artículo
en Da
| MEDLINE | ID: mdl-12768902
16.
[Beta-thalassemia major in children and adolescents in Denmark]. / beta-thalassaemia major hos børn og unge i Danmark.
Ugeskr Laeger
; 164(49): 5803-6, 2002 Dec 02.
Artículo
en Da
| MEDLINE | ID: mdl-12523224
17.
[Neurofibroma of the larynx in a nine month-old child]. / Laryngeal neurofibromatose hos et ni måneder gammelt barn.
Ugeskr Laeger
; 173(42): 2653-4, 2011 Oct 17.
Artículo
en Da
| MEDLINE | ID: mdl-22027168
18.
[Bisphosphonate treatment of children and adolescents]. / Bisfosfonatbehandling til børn og unge.
Ugeskr Laeger
; 165(5): 454-6, 2003 Jan 27.
Artículo
en Da
| MEDLINE | ID: mdl-12599842
19.
Spinal cord injury at birth: a hidden causative factor.
Acta Paediatr
; 97(6): 824-6, 2008 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-18397356
20.
[Oesteogenesis imperfecta--genetics, diagnosis and medical treatment]. / Osteogenesis imperfecta--genetik, diagnostik og medicinsk behandling.
Ugeskr Laeger
; 169(1): 30-4, 2007 Jan 01.
Artículo
en Da
| MEDLINE | ID: mdl-17217883