Detalhe da pesquisa
1.
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
2.
Eyeball Preservation With Purse-String Conjunctival Closure for Melting Corneal Ulcer in Rare Facial Cleft.
Cleft Palate Craniofac J
; 58(9): 1195-1200, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33349028
3.
Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome.
Am J Med Genet A
; 179(11): 2170-2177, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353810
4.
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
5.
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
6.
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
7.
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.
J Clin Endocrinol Metab
; 105(5)2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32034419
8.
Complex craniofacial cleft and accessory maxilla in oculoauriculofrontonasal syndrome.
Clin Dysmorphol
; 32(1): 21-24, 2023 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36503920
9.
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
Eur J Hum Genet
; 26(2): 210-219, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29348693
10.
Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability.
Mol Syndromol
; 7(6): 344-348, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27920638
11.
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
12.
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