Lv5
1540 积分 2022-10-04 加入
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
28天前
已完结
Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene
1个月前
已完结
TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large‐Sample Study
1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
1个月前
已完结
A Treg-specific long noncoding RNA maintains immune-metabolic homeostasis in aging liver
1个月前
已完结
Transcriptomics in the era of long-read sequencing
2个月前
已完结
Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His
2个月前
已完结
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping
2个月前
已完结
[Expert consensus on the clinical diagnosis and treatment of Congenital macrodactyly (2025 Edition)]
2个月前
已完结
Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson’s Disease
2个月前
已完结
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