Detalhe da pesquisa
1.
The effects of an online decision aid to support the reproductive decision-making process of genetically at risk couples-A pilot study.
J Genet Couns
; 32(1): 153-165, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36056622
2.
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
em Inglês
| MEDLINE | ID: mdl-31708118
3.
Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
Clin Genet
; 101(2): 149-160, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34297364
4.
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.
Hum Reprod
; 37(11): 2700-2708, 2022 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36149256
5.
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.
RNA
; 25(9): 1130-1149, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175170
6.
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Genet Med
; 23(6): 1125-1136, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33742171
7.
Liquid biopsy: state of reproductive medicine and beyond.
Hum Reprod
; 36(11): 2824-2839, 2021 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34562078
8.
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.
Hum Mol Genet
; 27(20): 3475-3487, 2018 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29931299
9.
Preserving fertility in young women undergoing chemotherapy for early breast cancer; the Maastricht experience.
Breast Cancer Res Treat
; 181(1): 77-86, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32236826
10.
Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing.
Hum Reprod
; 34(8): 1608-1619, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31348829
11.
Online decision support for persons having a genetic predisposition to cancer and their partners during reproductive decision-making.
J Genet Couns
; 28(3): 533-542, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30629779
12.
Ovarian stimulation for IVF and risk of primary breast cancer in BRCA1/2 mutation carriers.
Br J Cancer
; 119: 357-363, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29937543
13.
Mutation-specific effects in germline transmission of pathogenic mtDNA variants.
Hum Reprod
; 33(7): 1331-1341, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29850888
14.
De novo mtDNA point mutations are common and have a low recurrence risk.
J Med Genet
; 54(2): 73-83, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27450679
15.
Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices.
J Med Genet
; 54(10): 693-697, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28668821
16.
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
17.
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
Am J Med Genet B Neuropsychiatr Genet
; 177(1): 35-39, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29095566
18.
A comprehensive strategy for exome-based preconception carrier screening.
Genet Med
; 19(5): 583-592, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28492530
19.
PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.
Hum Reprod
; 32(3): 698-703, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28122886
20.
Advances in prenatal screening: the ethical dimension.
Nat Rev Genet
; 12(9): 657-63, 2011 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21850045