Lv5
1390 积分 2025-07-01 加入
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
15天前
已完结
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome
17天前
已完结
Toward clinical long-read genome sequencing for rare diseases
17天前
已完结
Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development
17天前
已完结
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics
17天前
已完结
中国戈谢病诊治专家共识(2015)
17天前
已完结
The HNRNPs and neurodevelopmental disorders
18天前
已完结
AI-CURA, an automated LLM workflow for high-accuracy genetic variant classification
18天前
已完结
21-羟化酶缺乏症的临床管理指南（2026）
25天前
已完结
[Guidelines for the diagnosis, treatment, and management of Citrin deficiency (2026 Edition)]
26天前
已完结
Reduction in Solid Fuel Consumption Through Coke Breeze Stage Addition in Sintering Process
17天前
已采纳
The alteration of Hippo/YAP signaling in the development of hypertrophic cardiomyopathy
17天前
已采纳
Long non-coding RNA HOX transcript antisense intergenic RNA depletion protects against alcoholic hepatitis through the microRNA-148a-3p/sphingosine 1-phosphate receptor 1 axis
17天前
已采纳
Long non-coding RNA HOX transcript antisense intergenic RNA depletion protects against alcoholic hepatitis through the microRNA-148a-3p/sphingosine 1-phosphate receptor 1 axis
17天前
已采纳
Cavity-enhanced optical frequency doubler based on transmission-mode Hänsch-Couillaud locking
17天前
已采纳
Real-time in-situ defect detection via multi-modal classification of waveforms for wire arc additive manufacturing
17天前
已采纳
A Water‐Stable Luminescent Zn‐MOF Based on A Conjugated π‐electron Ligand as An Efficient Sensor for Fe 3+ , CrO 4 2− , Cr 2 O 7 2− and MnO 4 −
17天前
已采纳
Improving the Initial Coulombic Efficiency of Carbonaceous Materials for Li/Na‑Ion Batteries: Origins, Solutions, and Perspective
17天前
已采纳
MYCN-mediated pyroptosis and inflammation in the molecular mechanism of MicroRNA-202-3P promote functional recovery in spinal cord injury
17天前
已采纳
Exosome-driven treatments for hair regrowth in androgenetic alopecia: a systematic review of preclinical studies, clinical experiments, safety, and future prospects
17天前
已采纳
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