Detalhe da pesquisa
1.
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
J Med Genet
; 60(5): 498-504, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36241386
2.
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Hum Mutat
; 43(5): 582-594, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170830
3.
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
J Med Genet
; 54(7): 479-488, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28119487
4.
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.
Am J Hum Genet
; 88(2): 150-61, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21295280