Detalhe da pesquisa
1.
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.
Am J Med Genet A
; 188(6): 1777-1791, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35253369
2.
Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study.
Prenat Diagn
; 41(10): 1351-1359, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176145
3.
Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results.
Genet Med
; 20(11): 1472-1476, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29493577
4.
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study.
Genet Med
; 20(5): 480-485, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29121006
5.
Comparing methods for fetal fraction determination and quality control of NIPT samples.
Prenat Diagn
; 37(8): 769-773, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28561435
6.
Trisomy 4 mosaicism: Delineation of the phenotype.
Am J Med Genet A
; 170A(4): 1040-5, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26789019
7.
Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact.
Prenat Diagn
; 36(12): 1083-1090, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27750376
8.
Response to letter to the editor PD-17-0390, a comment on "Comparing methods for fetal fraction determination and quality control of NIPT samples".
Prenat Diagn
; 37(12): 1266-1267, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29271028
9.
Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome.
Eur J Hum Genet
; 26(10): 1490-1496, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29899373
10.
Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism.
Mol Cytogenet
; 5(1): 8, 2012 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22284936