Detalhe da pesquisa
1.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074901
2.
The diagnosis of cerebral palsy in two Danish national registries: a validation study.
Scand J Public Health
; : 14034948231219825, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38179995
3.
Severe Congenital Heart Defects and Cerebral Palsy.
J Pediatr
; 262: 113617, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37473991
4.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain
; 145(9): 2991-3009, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34431999
5.
Children in Denmark with cerebral palsy rarely complete elementary school.
Dev Med Child Neurol
; 65(10): 1387-1394, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36974362
6.
The effect of gestational age on major neurodevelopmental disorders in preterm infants.
Pediatr Res
; 91(7): 1906-1912, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34420036
7.
Declining prevalence of cerebral palsy in children born at term in Denmark.
Dev Med Child Neurol
; 64(6): 715-722, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927722
8.
Using both electromyography and movement disorder assessment improved the classification of children with dyskinetic cerebral palsy.
Acta Paediatr
; 111(2): 323-335, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34655503
9.
Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children.
Neuropediatrics
; 52(6): 462-468, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33706403
10.
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability.
Brain
; 142(2): 376-390, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30615093
11.
Children with dyskinetic cerebral palsy are severely affected as compared to bilateral spastic cerebral palsy.
Acta Paediatr
; 108(10): 1850-1856, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30933377
12.
Recent advances in understanding the etiology and pathogenesis of pediatric germ cell tumors.
J Pediatr Hematol Oncol
; 36(4): 263-70, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24577549
13.
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice.
Orphanet J Rare Dis
; 18(1): 377, 2023 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38042867
14.
[Basic and advanced treatment of children and adults with epilepsy].
Ugeskr Laeger
; 184(26)2022 06 27.
Artigo
em Dinamarquês
| MEDLINE | ID: mdl-35786227
15.
Nutrition and preparation of blenderized tube feeding in children and adolescents with neurological impairment: A scoping review.
Nutr Clin Pract
; 37(4): 783-796, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35403308
16.
Application of stem cell markers in search for neoplastic germ cells in dysgenetic gonads, extragonadal tumours, and in semen of infertile men.
Cancer Treat Rev
; 34(4): 348-67, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18289797
17.
Immunoexpression of androgen receptor and nine markers of maturation in the testes of adolescent boys with Klinefelter syndrome: evidence for degeneration of germ cells at the onset of meiosis.
J Clin Endocrinol Metab
; 92(2): 714-9, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17148558
18.
Ovarian dysgerminomas are characterised by frequent KIT mutations and abundant expression of pluripotency markers.
Mol Cancer
; 6: 12, 2007 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-17274819
19.
Environment, testicular dysgenesis and carcinoma in situ testis.
Best Pract Res Clin Endocrinol Metab
; 21(3): 462-78, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17875492
20.
From gonocytes to testicular cancer: the role of impaired gonadal development.
Ann N Y Acad Sci
; 1120: 168-80, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18184914