Detalhe da pesquisa
1.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071997
2.
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
3.
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia.
Eur J Med Genet
; 65(10): 104574, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35918037
4.
The different clinical facets of SYN1-related neurodevelopmental disorders.
Front Cell Dev Biol
; 10: 1019715, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36568968