Detalhe da pesquisa
1.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Am J Hum Genet
; 111(3): 487-508, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38325380
2.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117302
3.
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.
Eur J Hum Genet
; 32(3): 350-356, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38200082