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Koenraad Devriendt

university hospitals leuven
H指数:87
被引数:3.0万

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Multicentric Longitudinal Performance Monitoring of Different Prenatal Cell-Free DNA Screening Technologies in Belgium

比利时多中心纵向监测不同产前游离DNA筛查技术的性能

2026-09-220
OAAI
An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants

基于表观遗传特征指导的系统分析以确定CHD8错义变异的临床意义和后果

2026-08-100
OA
Persistent Uninterpretable or Failed Prenatal Cell-Free DNA Screening Indicates a High-Risk Pregnancy and is Associated With Biological Factors Interfering With cfDNA-Analysis: A Prospective Cohort Study

持续性不可解释或失败的产前游离DNA筛查提示高风险妊娠,并与干扰cfDNA分析的生物因素相关:一项前瞻性队列研究

2025-03-200
PRE
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
2025-01-010
OAAI
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
2023-08-167
OAAI
Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
2023-04-072
OA
Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group

增加非洲基因组数据的生成和共享,以解决非洲罕见和未确诊的疾病: H3Africa罕见疾病工作组的行动呼吁

2022-06-1627
OAAI
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease (vol 17, e1009679, 2021)

基因组变异的综合分析揭示了候选单倍体不足基因与先天性心脏病的新关联 (第17卷,e1009679,2021)

2021-09-210
OAAI
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
2021-06-0181
OAAI
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations
2021-05-0412
OA
Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies

对常规非侵入性检测数据进行全面的全基因组分析可以预测癌症: 对超过85,000例妊娠的单中心回顾性分析

2021-05-0141
OAAI
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

PPP2R1A-related神经发育障碍的广泛表型谱与生化功能障碍的程度相关

2021-02-0127
OAAI
DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age

20名出生时小于胎龄的矮小儿童的DNA甲基化图谱和基因组分析

2020-10-1411
OAAI
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
BRAIN
IF11.7
2019-12-1336
OAAI
PEDIA: prioritization of exome data by image analysis

PEDIA: 通过图像分析对外显子组数据进行优先排序

2019-12-0144
OAAI