Detalhe da pesquisa
1.
Prenatal diagnosis of ROR-2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities.
Prenat Diagn
; 44(5): 653-656, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38504427
2.
Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.
Prenat Diagn
; 44(5): 665-668, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38554254
3.
Adopted individuals' interest in elective genomic testing.
J Med Genet
; 59(2): 197-203, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443090
4.
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
Genet Med
; 19(10): 1171-1178, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28425981
5.
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
Neurogenetics
; 17(3): 173-8, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27094857
6.
Value of amniocentesis versus fetal tissue for cytogenetic analysis in cases of fetal demise.
Fetal Diagn Ther
; 26(2): 81-4, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19752519