Detalhe da pesquisa
1.
Perceptions of reproductive healthcare providers regarding their involvement in offering expanded carrier screening in fertility clinics: a qualitative study.
Reprod Biomed Online
; 49(1): 103857, 2024 Feb 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38643517
2.
Primary care professionals' views on population-based expanded carrier screening: an online focus group study.
Fam Pract
; 2023 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36722294
3.
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
Am J Hum Genet
; 105(6): 1091-1101, 2019 12 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31708118
4.
Views of patients and parents of children with genetic disorders on population-based expanded carrier screening.
Prenat Diagn
; 42(9): 1201-1210, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35734853
5.
Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy.
Prenat Diagn
; 42(6): 762-774, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34643287
6.
Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions.
Genet Med
; 23(9): 1761-1768, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34112999
7.
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Am Heart J
; 225: 108-119, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32480058
8.
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
Inglês
| MEDLINE | ID: mdl-32627857
9.
Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple-based approach and examination of couples' views.
Prenat Diagn
; 39(5): 369-378, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30756401
10.
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.
Genet Med
; 20(11): 1374-1386, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-29517769
11.
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
Inglês
| MEDLINE | ID: mdl-28056858
12.
Women's Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results.
J Genet Couns
; 26(6): 1348-1356, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28667567
13.
Improving usual care after sudden death in the young with focus on inherited cardiac diseases (the CAREFUL study): a community-based intervention study.
Europace
; 18(4): 592-601, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25833117
14.
Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part II-women's perspectives.
Prenat Diagn
; 36(12): 1091-1098, 2016 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-27739584
15.
Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature.
Genet Med
; 17(8): 668-78, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-25503495
16.
Quality of Life in Young Adult Patients with a Cardiogenetic Condition Receiving an ICD for Primary Prevention of Sudden Cardiac Death.
Pacing Clin Electrophysiol
; 38(7): 870-7, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25880250
17.
Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.
Eur Heart J
; 35(32): 2165-73, 2014 Aug 21.
Artigo
Inglês
| MEDLINE | ID: mdl-24558114
18.
Antibiotics prescribed before, during and after pregnancy in the Netherlands: a drug utilization study.
Pharmacoepidemiol Drug Saf
; 23(1): 60-8, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23913654
19.
Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications.
Eur J Hum Genet
; 2024 Mar 14.
Artigo
Inglês
| MEDLINE | ID: mdl-38480795
20.
Predicting personal cardiovascular disease risk based on family health history: Development of expert-based family criteria for the general population.
Eur J Hum Genet
; 31(12): 1381-1386, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36973393