Detalhe da pesquisa
1.
Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants.
Prenat Diagn
; 43(1): 3-13, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36447355
2.
A decade of change - lessons learned from prenatal diagnostics in Central Denmark region in 2008-2018.
Acta Obstet Gynecol Scand
; 102(11): 1505-1510, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37477337
3.
Unexplained cholestasis in adults and adolescents: diagnostic benefit of genetic examination.
Scand J Gastroenterol
; 53(3): 305-311, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29304564
4.
On the road to replacing invasive testing with cell-based NIPT: Five clinical cases with aneuploidies, microduplication, unbalanced structural rearrangement, or mosaicism.
Prenat Diagn
; 37(11): 1120-1124, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28881392
5.
A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia.
Am J Med Genet A
; 164A(8): 2059-61, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24764207
6.
Multifocal ectopic purkinje-related premature contractions and related cardiomyopathy.
Front Cardiovasc Med
; 10: 1179018, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37600057
7.
The clinical use of polygenic risk scores.
Ugeskr Laeger
; 185(39)2023 09 25.
Artigo
em Dinamarquês
| MEDLINE | ID: mdl-37873989
8.
Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls.
Front Genet
; 14: 1188472, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37829280
9.
Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome.
Heart Rhythm
; 20(8): 1136-1143, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36806574
10.
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
11.
Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region.
Eur J Med Genet
; 64(8): 104244, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022415
12.
Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform.
Eur J Med Genet
; 62(1): 1-8, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29653220
13.
Cell-free DNA in pregnancy with choriocarcinoma and coexistent live fetus: A case report.
Medicine (Baltimore)
; 95(37): e4721, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27631219
14.
Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes.
Clin Epigenetics
; 8: 69, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27313795
15.
Diagnostic performance of quantitative fluorescence PCR analysis in high-risk pregnancies after combined first-trimester screening.
Dan Med J
; 61(11): A4964, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25370964
16.
Comparison of recombinant human haptocorrin expressed in human embryonic kidney cells and native haptocorrin.
PLoS One
; 7(5): e37421, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22662153
17.
The expression level of the chromatin-associated HMGB1 protein influences growth, stress tolerance, and transcriptome in Arabidopsis.
J Mol Biol
; 384(1): 9-21, 2008 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18822296