Detalhe da pesquisa
1.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet
; 32(14): 2373-2385, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195288
2.
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Ann Neurol
; 93(2): 330-335, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36333996
3.
Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann-Steiner syndromes.
Clin Genet
; 102(4): 296-304, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35821609
4.
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Epilepsia
; 63(10): 2519-2533, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718920
5.
Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.
Clin Genet
; 98(3): 251-260, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32557569
6.
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.
Am J Med Genet A
; 182(5): 1236-1242, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32052936
7.
Intermediate autosomal recessive osteopetrosis with a large noncoding deletion in SNX10: A case report.
Pediatr Blood Cancer
; 66(7): e27751, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30977576
8.
Tick-borne encephalitis in pediatrics: An often overlooked diagnosis.
Infect Dis Now
; 53(2): 104645, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36642097
9.
Age and Gender Differences in Belgian Dutch Intonation.
J Voice
; 2022 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35078698
10.
Genetic generalized epilepsy and generalized onset seizures with focal evolution (GOFE).
Epilepsy Behav Rep
; 19: 100555, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35706911
11.
Growth charts in Cockayne syndrome type 1 and type 2.
Eur J Med Genet
; 64(1): 104105, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33227433
12.
[Epilepsy in children and adults. Part 1. Childhood epilepsy]. / Épilepsie de l'enfant et de l'adulte. Partie 1. Épilepsie de l'enfant.
Rev Prat
; 73(10): 1147-1153, 2023 Dec.
Artigo
em Francês
| MEDLINE | ID: mdl-38294487
13.
Novel high content multi-parametric cell-based assays.
Biotechniques
; 43(1): 116-7, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17695261