Detalhe da pesquisa
1.
Natural history of adults with KBG syndrome: a physician-reported experience.
Genet Med
; : 101170, 2024 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38818797
2.
Use of cell-free non-invasive prenatal testing in pregnancies affected by placental mosaicism.
Prenat Diagn
; 44(5): 562-571, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38520498
3.
Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review.
Prenat Diagn
; 41(4): 409-421, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33251614
4.
The spectrum of intermediate SCN8A-related epilepsy.
Epilepsia
; 60(5): 830-844, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30968951
5.
Incidental finding of maternal malignancy in an unusual non-invasive prenatal test and a review of similar cases.
Clin Case Rep
; 10(10): e6280, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36245448
6.
Non-invasive prenatal testing offered as part of a combined first-trimester screening program identifies tetrasomy 18p in a high-risk pregnancy.
Prenat Diagn
; 36(12): 1112-1114, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27743407
7.
Preferences for prenatal testing among pregnant women, partners and health professionals.
Dan Med J
; 65(5)2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29726320
8.
Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray.
Eur J Med Genet
; 59(1): 48-51, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26679067