Detalhe da pesquisa
1.
Preferences and experiences of parents/guardians of youth with epilepsy and intellectual disability on reproductive health counseling.
Epilepsy Behav
; 152: 109658, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38277851
2.
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
N Engl J Med
; 367(14): 1321-31, 2012 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22970919
3.
Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder.
Ann Clin Transl Neurol
; 11(4): 1034-1045, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38375538
4.
Down syndrome regression disorder: updates and therapeutic advances.
Curr Opin Psychiatry
; 36(2): 96-103, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36705008
5.
Immunotherapy Responsiveness and Risk of Relapse in Down Syndrome Regression Disorder.
Res Sq
; 2023 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36824719
6.
Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder.
Transl Psychiatry
; 13(1): 276, 2023 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37553347
7.
Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus.
Front Neurol
; 13: 940175, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35911905
8.
Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort.
Front Pediatr
; 9: 736255, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35036394
9.
Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.
Mol Genet Genomic Med
; 9(4): e1647, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33666368
10.
Neuromyelitis optica in a young child with positive serum autoantibody.
Pediatr Neurol
; 39(3): 209-12, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18725070