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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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35659929
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36056622
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31708118
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35803237
5.
Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.
Prenat Diagn
; 39(3): 219-231, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30578734
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29121006
7.
Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review.
Mol Genet Genomic Med
; 9(11): e1827, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34636181
8.
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy.
Eur J Hum Genet
; 24(12): 1783-1791, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27406248
9.
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Nat Genet
; 44(5): 581-5, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22522421
10.
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
Eur J Hum Genet
; 18(9): 999-1005, 2010 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-20531442
11.
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Eur J Hum Genet
; 17(12): 1560-9, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19550437
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