Detalhe da pesquisa
1.
Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.
Am J Med Genet A
; 185(1): 242-249, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098373
2.
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.
Am J Med Genet A
; 179(8): 1615-1621, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31145527
3.
Case report: A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review.
Front Genet
; 14: 1315291, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38380230
4.
A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.
Mol Cytogenet
; 12: 26, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31223340