Detalhe da pesquisa
1.
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Mol Psychiatry
; 26(6): 2013-2024, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32346159
2.
Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.
Am J Med Genet A
; 185(4): 1039-1046, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33439542
3.
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.
Eur J Hum Genet
; 29(9): 1418-1423, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33603161