日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution

CYP21A2相关先天性肾上腺皮质增生症的基因诊断:自适应采样长读长测序是一种准确且可扩展的解决方案

Lildballe, Dorte Launholt; Huno, Morten Reiffenstein; Ridder, Lukas Ochsner Reynaud; Balle, Camilla Mains; Drue, Simon Opstrup; Berglund, Agnethe; Dunø, Morten; Bak, Ebbe Norskov; Viuff, Mette Hansen; Rasmussen, Laura Skak; Gravholt, Claus Højbjerg

Barriers and facilitators in the implementation of nutrition interventions to prevent or treat malnutrition in older adults: A scoping review

老年人营养干预措施在预防或治疗营养不良方面的障碍和促进因素:一项范围界定综述

Launholt, Tine Louise; Larsen, Palle; Aadal, Lena; Kristensen, Hanne Kaae

The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years

基因组疾病在病因不明的慢性肾功能衰竭(≤50岁)中的作用

Granhøj, Jeff; Pedersen, Katja Venborg; Aagaard, Mads Malik; Graakjaer, Jesper Aagaard; Lildballe, Dorte Launholt; Birn, Henrik; Rasmussen, Maria

A decade of change - lessons learned from prenatal diagnostics in Central Denmark region in 2008-2018

十年变迁——2008-2018年丹麦中部地区产前诊断的经验教训

Lildballe, Dorte Launholt; Becher, Naja; Vestergaard, Else Marie; Christensen, Rikke; Lou, Stina; Sandager, Puk; Pedersen, Lars Henning; Gadsbøll, Kasper; Petersen, Olav Bjørn; Vogel, Ida

Multifocal ectopic purkinje-related premature contractions and related cardiomyopathy

多灶性异位浦肯野纤维相关性早搏及相关心肌病

Calloe, Kirstine; Magnusson, Helena B D; Lildballe, Dorte Launholt; Christiansen, Morten Krogh; Jensen, Henrik Kjærulf

Clinical interpretation of cell-based non-invasive prenatal testing for monogenic disorders including repeat expansion disorders: potentials and pitfalls

细胞无创产前检测在单基因疾病(包括重复序列扩增疾病)中的临床应用:潜力和不足

Jeppesen, Line Dahl; Hatt, Lotte; Singh, Ripudaman; Schelde, Palle; Ravn, Katarina; Toft, Christian Liebst; Laursen, Maria Bach; Hedegaard, Jakob; Christensen, Inga Baasch; Nicolaisen, Bolette Hestbek; Andreasen, Lotte; Pedersen, Lars Henning; Vogel, Ida; Lildballe, Dorte Launholt

Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants

利用循环滋养层细胞进行囊性纤维化的无创产前筛查:检测50种最常见的致病变异

Jeppesen, Line Dahl; Lildballe, Dorte Launholt; Hatt, Lotte; Hedegaard, Jakob; Singh, Ripudaman; Toft, Christian Liebst Frisk; Schelde, Palle; Pedersen, Anders Sune; Knudsen, Michael; Vogel, Ida

Cell-free DNA in pregnancy with choriocarcinoma and coexistent live fetus: A case report

妊娠合并绒毛膜癌及存活胎儿时出现游离DNA:病例报告

Kristiansen, Mona Kjaerboel; Niemann, Isa; Lindegaard, Jacob Christian; Christiansen, Mette; Joergensen, Mette Warming; Vogel, Ida; Lildballe, Dorte Launholt; Sunde, Lone

Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

涉及 CDKN1C 基因的两次母体重复与截然不同的生长表型相关

Susanne Eriksen Boonen #, Andrea Freschi #, Rikke Christensen, Federica Maria Valente, Dorte Launholt Lildballe, Lucia Perone, Orazio Palumbo, Massimo Carella, Niels Uldbjerg, Angela Sparago, Andrea Riccio, Flavia Cerrato

Comparison of recombinant human haptocorrin expressed in human embryonic kidney cells and native haptocorrin

人胚胎肾细胞中表达的重组人 haptocorrin 与天然 haptocorrin 的比较

Evelyne Furger, Sergey N Fedosov, Dorte Launholt Lildballe, Robert Waibel, Roger Schibli, Ebba Nexo, Eliane Fischer