Detalhe da pesquisa
1.
Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant.
Eur J Neurol
; : e16325, 2024 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38803061
2.
7p22.2 Microduplication: A Pathogenic CNV?
Genes (Basel)
; 14(6)2023 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37372471
3.
3q29 microduplication syndrome: New evidence for the refinement of the critical region.
Mol Genet Genomic Med
; 11(4): e2130, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36691815
4.
Are problem buying and problem gambling addictive, impulsive, or compulsive in nature? A network analysis and latent dimension analysis study in Italian community-dwelling adults.
Psychiatry Res
; 321: 115100, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36774751
5.
A new approach to broaden the range of eye colour identifiable by IrisPlex in DNA phenotyping.
Sci Rep
; 12(1): 12803, 2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896692
6.
Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders.
Psychiatr Genet
; 31(6): 239-245, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34412080
7.
A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2?
Gastroenterol Rep (Oxf)
; 12: goae022, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38665279