Detalhe da pesquisa
1.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Am J Hum Genet
; 109(6): 1140-1152, 2022 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35659929
2.
Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy.
Prenat Diagn
; 42(6): 762-774, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34643287
3.
Effect of prenatal screening on trends in perinatal mortality associated with congenital anomalies before and after the introduction of prenatal screening: A population-based study in the Northern Netherlands.
Paediatr Perinat Epidemiol
; 35(6): 654-663, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34328233
4.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Am J Hum Genet
; 109(7): 1344, 2022 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35803237
5.
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Prenat Diagn
; 40(10): 1300-1309, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32627857
6.
Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014.
J Assist Reprod Genet
; 35(11): 1995-2002, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30187425
7.
Stillbirth and neonatal mortality in pregnancies complicated by major congenital anomalies: Findings from a large European cohort.
Prenat Diagn
; 37(11): 1100-1111, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28837248
8.
The impact of national prenatal screening on the time of diagnosis and outcome of pregnancies affected with common trisomies, a cohort study in the Northern Netherlands.
BMC Pregnancy Childbirth
; 17(1): 4, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28056858
9.
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
J Clin Invest
; 134(4)2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38357931
10.
The introduction of arrays in prenatal diagnosis: a special challenge.
Hum Mutat
; 33(6): 923-9, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22508381
11.
The implementation of unit-based perinatal mortality audit in perinatal cooperation units in the northern region of the Netherlands.
BMC Health Serv Res
; 12: 195, 2012 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22776712
12.
Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study.
J Clin Oncol
; 40(22): 2426-2435, 2022 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394817
13.
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
J Clin Invest
; 131(5)2021 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33645542
14.
Cytogenetic analysis after evaluation of 750 fetal deaths: proposal for diagnostic workup.
Obstet Gynecol
; 111(4): 865-74, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18378745
15.
Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study.
BMC Pregnancy Childbirth
; 8: 18, 2008 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-18492228
16.
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Nat Commun
; 9(1): 4065, 2018 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30283131
17.
NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results.
Sci Rep
; 6: 38359, 2016 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27917919
18.
Further delineation of the KAT6B molecular and phenotypic spectrum.
Eur J Hum Genet
; 23(9): 1165-70, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25424711
19.
Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families.
Am J Med Genet
; 110(4): 324-31, 2002 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12116205
20.
[Clinical signs of cystic fibrosis in adult patients]. / Klinische manifestaties cystische fibrose bij volwassen patiënten.
Ned Tijdschr Geneeskd
; 153(11): 485-9, 2009 Mar 14.
Artigo
em Holandês
| MEDLINE | ID: mdl-19402321