Lv5
886 积分 2021-08-28 加入
Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed
9天前
已完结
Uniparental Disomy: A Scoping Review of Diagnostic Challenges, Clinical Spectrum,and Counselling Implications
1个月前
已完结
Uniparental Disomy: A Scoping Review of Diagnostic Challenges, Clinical Spectrum, and Counselling Implications
1个月前
已关闭
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics
1个月前
已完结
Prenatal diagnosis and estimated penetrance of 15q11.2 BP1–BP2 microdeletion syndrome in a Chinese cohort: a retrospective study and literature review
2个月前
已完结
Open-Source Large Language Models Distilled DeepSeek-R1 Pose Challenges for On-Premises Clinical Deployment in Medical Diagnosis: A Comparative Study of Performance
2个月前
已完结
Phenotypic complexities of rare heterozygous neurexin-1 deletions
5个月前
已完结
AAVLINK: A potent DNA-recombination method for large cargo delivery in gene therapy
5个月前
已完结
The landscape of chromosomal aberrations in couples seeking assisted reproductive treatment
5个月前
已完结
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