Detalhe da pesquisa
1.
Mandibulofacial dysostosis Bauru type: Refining the phenotype.
Am J Med Genet A
; 173(7): 1747-1753, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28558149
2.
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
Am J Med Genet A
; 173(4): 938-945, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328130
3.
A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.
Bone
; 153: 116152, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400385
4.
An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases.
Clin Dysmorphol
; 24(4): 144-50, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25816358
5.
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
Eur J Hum Genet
; 23(4): 481-5, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25026904
6.
Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases.
J Pediatr Genet
; 2(4): 173-80, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27625856