Lv5
1540 积分 2022-10-04 加入
TR frequency distributions and TR disparity scores
19天前
已关闭
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
2个月前
已完结
Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene
3个月前
已完结
TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large‐Sample Study
3个月前
已完结
Proteomic Landscape of Sweat Glands in Neuronal Intranuclear Inclusion Disease Reveals a Pathogenic Triad of Abnormal Autophagy, Mitochondrial Dysfunction, and a Failed Oxidative Stress Response
3个月前
已完结
A Treg-specific long noncoding RNA maintains immune-metabolic homeostasis in aging liver
3个月前
已完结
Transcriptomics in the era of long-read sequencing
3个月前
已完结
Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His
4个月前
已完结
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping
4个月前
已完结
[Expert consensus on the clinical diagnosis and treatment of Congenital macrodactyly (2025 Edition)]
4个月前
已完结
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