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1370 积分 2025-07-01 加入
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics
7天前
已完结
Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
1个月前
已完结
染色体微阵列分析实验室技术要求专家共识
1个月前
已完结
NOTCH2 related disorders: Description and review of the fetal presentation
1个月前
已完结
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
2个月前
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
2个月前
已完结
Toward clinical long-read genome sequencing for rare diseases
2个月前
已完结
Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development
2个月前
已完结
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics
2个月前
已完结
中国戈谢病诊治专家共识(2015)
2个月前
已完结
Reduction in Solid Fuel Consumption Through Coke Breeze Stage Addition in Sintering Process
2个月前
已采纳
The alteration of Hippo/YAP signaling in the development of hypertrophic cardiomyopathy
2个月前
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
2个月前
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
2个月前
已采纳
Cavity-enhanced optical frequency doubler based on transmission-mode Hänsch-Couillaud locking
2个月前
已采纳
Real-time in-situ defect detection via multi-modal classification of waveforms for wire arc additive manufacturing
2个月前
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 −
2个月前
已采纳
Improving the Initial Coulombic Efficiency of Carbonaceous Materials for Li/Na‑Ion Batteries: Origins, Solutions, and Perspective
2个月前
已采纳
MYCN-mediated pyroptosis and inflammation in the molecular mechanism of MicroRNA-202-3P promote functional recovery in spinal cord injury
2个月前
已采纳
Exosome-driven treatments for hair regrowth in androgenetic alopecia: a systematic review of preclinical studies, clinical experiments, safety, and future prospects
2个月前
已采纳
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