Detalhe da pesquisa
1.
Improving care for rare genetic neurodevelopmental disorders: A systematic review and critical appraisal of clinical practice guidelines using AGREE II.
Genet Med
; 26(4): 101071, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38224026
2.
Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?
Genet Med
; 26(2): 101033, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38007624
3.
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
em Inglês
| MEDLINE | ID: mdl-38643517
4.
Neonatal mortality and morbidity in Down syndrome in the time of prenatal aneuploidy testing: a retrospective cohort study.
Eur J Pediatr
; 182(1): 319-328, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36350406
5.
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).
Genet Med
; 23(7): 1356-1365, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824503
6.
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
7.
Uptake of fetal aneuploidy screening after the introduction of the non-invasive prenatal test: A national population-based register study.
Acta Obstet Gynecol Scand
; 100(7): 1265-1272, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33465829
8.
International perspectives on the implementation of reproductive carrier screening.
Prenat Diagn
; 40(3): 301-310, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31774570
9.
Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?
Genet Med
; 21(2): 498-504, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29895853
10.
The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.
Genet Med
; 21(3): 718-726, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30050101
11.
Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.
Genet Med
; 21(7): 1669, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30139992
12.
Value-based genomic screening: exploring genomic screening for chronic diseases using triple value principles.
BMC Health Serv Res
; 19(1): 823, 2019 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31711483
13.
The ethics of clinical applications of germline genome modification: a systematic review of reasons.
Hum Reprod
; 33(9): 1777-1796, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30085071
14.
Experiences of a High-Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study.
J Genet Couns
; 27(3): 635-646, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28980104
15.
Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives.
Eur J Public Health
; 27(2): 372-377, 2017 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27485720
16.
Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape.
BMC Health Serv Res
; 17(1): 146, 2017 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28209157
17.
Implementing non-invasive prenatal testing for aneuploidy in a national healthcare system: global challenges and national solutions.
BMC Health Serv Res
; 17(1): 670, 2017 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28927451
18.
What Do Parents of Children with Down Syndrome Think about Non-Invasive Prenatal Testing (NIPT)?
J Genet Couns
; 26(3): 522-531, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27618823
19.
Changing to NIPT as a first-tier screening test and future perspectives: opinions of health professionals.
Prenat Diagn
; 35(13): 1316-23, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26411372
20.
Effects of a simple educational intervention in well-baby clinics on women's knowledge about and intake of folic acid supplements in the periconceptional period: a controlled trial.
Public Health Nutr
; 18(6): 1119-26, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24866258