Detalhe da pesquisa
1.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861666
2.
Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype.
Front Genet
; 12: 761264, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34925453
3.
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.
Brain Dev
; 37(5): 527-36, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25249037