Detalhe da pesquisa
1.
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Prenat Diagn
; 43(6): 734-745, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36914926
2.
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.
Clin Genet
; 101(3): 364-370, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34904221
3.
Long-read sequencing unravels the complexity of structural variants in PRKN in two individuals with early-onset Parkinson's disease.
medRxiv
; 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746197
4.
Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
Mol Genet Genomic Med
; 11(9): e2219, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353886