Detalhe da pesquisa
1.
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
NPJ Genom Med
; 9(1): 22, 2024 Mar 26.
Artigo
Inglês
| MEDLINE | ID: mdl-38531898
2.
Cognitive impairment is not uncommon in patients with biallelic RFC1 AAGGG repeat expansion, but the expansion is rare in patients with cognitive disease.
Parkinsonism Relat Disord
; 103: 98-101, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-36088850
3.
Novel Rare SORL1 Variants in Early-Onset Dementia.
J Alzheimers Dis
; 82(2): 761-770, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34092641