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.
Olfactory bulb anomalies in KBG syndrome mouse model and patients.
BMC Med
; 22(1): 158, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38616269
3.
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
Mol Genet Genomic Med
; 8(6): e1203, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196989
4.
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Eur J Hum Genet
; 25(6): 694-701, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28422132