Detalhe da pesquisa
1.
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
J Med Genet
; 57(5): 301-307, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287593
2.
Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.
Prenat Diagn
; 36(5): 397-406, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26850935
3.
A genome-wide search for new imprinted genes in the human placenta identifies DSCAM as the first imprinted gene on chromosome 21.
Eur J Hum Genet
; 27(1): 49-60, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30206355
4.
Droplet digital PCR, a new approach to analyze fetal DNA from maternal blood: application to the determination of fetal RHD genotype.
Ann Biol Clin (Paris)
; 74(3): 269-77, 2016 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27237800