Detalhe da pesquisa
1.
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Hum Mutat
; 41(12): 2167-2178, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131162
2.
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Hum Mol Genet
; 23(9): 2279-89, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24319099
3.
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
Prenat Diagn
; 36(6): 523-9, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27018091
4.
Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient.
Clin Case Rep
; 3(9): 757-61, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26401282