Detalhe da pesquisa
1.
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
Clin Genet
; 95(3): 384-397, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30614526
2.
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.
Prenat Diagn
; 36(13): 1270-1275, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27859469
3.
A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis.
Prenat Diagn
; 35(13): 1379-81, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26443304
4.
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases.
Acta Neuropathol
; 117(2): 185-200, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19057916
5.
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.
Mol Genet Genomic Med
; 7(11): e00895, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31493343
6.
Prevalence and timing of pregnancy termination for brain malformations.
Arch Dis Child Fetal Neonatal Ed
; 96(5): F360-4, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21252198