Lv3
330 积分 2024-04-11 加入
Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features
16天前
已完结
Exploring the complexity of MECP2 function in Rett syndrome
16天前
已完结
Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies
22天前
已完结
Clinical Application of Genetic Testing for Fetal Agenesis of the Corpus Callosum in Prenatal Diagnosis
2个月前
已完结
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
2个月前
已完结
The improvement in diagnostic yield of developmental and epileptic encephalopathy by the multi-omics sequential testing method
2个月前
已完结
New biomarkers for the detection of fetal death derived from large-scale proteomic analysis of maternal plasma
3个月前
已关闭
Polygenic Risk of New Onset Atrial Fibrillation in Nonischemic Cardiomyopathy
4个月前
已完结
Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications
4个月前
已完结
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients
4个月前
已完结
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