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1.
Use of cell-free non-invasive prenatal testing in pregnancies affected by placental mosaicism.
Prenat Diagn
; 44(5): 562-571, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38520498
2.
Implementation of exome sequencing in fetal diagnostics-Data and experiences from a tertiary center in Denmark.
Acta Obstet Gynecol Scand
; 99(6): 783-790, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32304219
3.
Combination of real-time PCR and sequencing to detect multiple clinically relevant genetic variations in the lactase gene.
Scand J Clin Lab Invest
; 77(1): 60-65, 2017 Feb.
Article
in English
| MEDLINE | ID: mdl-27937006
4.
DNA Topoisomerases maintain promoters in a state competent for transcriptional activation in Saccharomyces cerevisiae.
PLoS Genet
; 8(12): e1003128, 2012.
Article
in English
| MEDLINE | ID: mdl-23284296
5.
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant.
Eur J Med Genet
; 67: 104894, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38070826
6.
Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2.
Eur J Med Genet
; 66(2): 104695, 2023 Feb.
Article
in English
| MEDLINE | ID: mdl-36608738
7.
Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls.
Front Genet
; 14: 1188472, 2023.
Article
in English
| MEDLINE | ID: mdl-37829280
8.
An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice.
Am J Pathol
; 179(2): 903-14, 2011 Aug.
Article
in English
| MEDLINE | ID: mdl-21689626
9.
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.
Article
in English
| MEDLINE | ID: mdl-36245448
10.
Cell-Based NIPT Detects 47,XXY Genotype in a Twin Pregnancy.
Front Genet
; 13: 842092, 2022.
Article
in English
| MEDLINE | ID: mdl-35360877
11.
A novel nonsense variant in MED12 associated with malformations in a female fetus.
Clin Case Rep
; 9(12): e05124, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34987808
12.
Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome-Applications and Advantages of Cell-Based NIPT.
Front Genet
; 12: 741752, 2021.
Article
in English
| MEDLINE | ID: mdl-34594364
13.
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
Eur J Med Genet
; 64(9): 104280, 2021 Sep.
Article
in English
| MEDLINE | ID: mdl-34229113
14.
Model-based evaluation of the short-circuited tripolar cuff configuration.
Med Biol Eng Comput
; 44(5): 404-13, 2006 May.
Article
in English
| MEDLINE | ID: mdl-16937182
15.
Paternal Hemizygosity in 11p15 in Mole-like Conceptuses: Two Case Reports.
Medicine (Baltimore)
; 94(44): e1776, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26554776
16.
Artefact reduction with alternative cuff configurations.
IEEE Trans Biomed Eng
; 50(10): 1160-6, 2003 Oct.
Article
in English
| MEDLINE | ID: mdl-14560769
17.
Signal strength versus cuff length in nerve cuff electrode recordings.
IEEE Trans Biomed Eng
; 49(9): 1045-50, 2002 Sep.
Article
in English
| MEDLINE | ID: mdl-12214877
18.
Skin contact forces extracted from human nerve signals--a possible feedback signal for FES-aided control of standing.
IEEE Trans Biomed Eng
; 50(12): 1320-5, 2003 Dec.
Article
in English
| MEDLINE | ID: mdl-14656061
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