Detalhe da pesquisa
1.
Destabilization of mutated human PUS3 protein causes intellectual disability.
Hum Mutat
; 43(12): 2063-2078, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36125428
2.
Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.
Int J Mol Sci
; 23(13)2022 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35806091
3.
The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model.
Cells
; 12(2)2023 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672274
4.
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Eur J Hum Genet
; 31(2): 202-215, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36434256
5.
WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.
Genes (Basel)
; 12(12)2021 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946860
6.
The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).
J Mother Child
; 24(3): 32-36, 2021 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33930262