Lv6
1910 积分 2025-04-03 加入
八个遗传性异常纤维蛋白原血症家系的临床和基因突变分析
6小时前
待确认
Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy
12天前
已完结
Old and new perspectives on Neurofibromatosis type 1: Clinical and molecular characterization of 832 patients from a single centre over 16 years
19天前
已完结
Adult-Onset Focal Segmental Glomerulosclerosis With Steroid-Dependent Nephrotic Syndrome Caused by a Novel TBC1D8B Variant: A Case Report and Literature Review
20天前
已完结
Whole exome sequencing improves genetic diagnosis of fetal clubfoot
1个月前
已完结
[Genetic analysis and prenatal diagnosis of a pregnant woman with Sheldon-Hall syndrome]
1个月前
已完结
First Report of a Novel Pathogenic Variant in the RREB1 Gene Associated With Obesity and Metabolic Syndrome
1个月前
已完结
The first case of a point pathogenic variant in the RREB1 gene in Noonan‐like Rasopathy
1个月前
已完结
Review for "The first case of a point pathogenic variant in the RREB1 gene in Noonan‐like Rasopathy"
1个月前
已关闭
The improvement in diagnostic yield of developmental and epileptic encephalopathy by the multi-omics sequential testing method
1个月前
已完结
Accelerated O─O Bond Cleavage and Stabilized Fe Sites by Synergistic d─p Fe─Sn Dual-Atom Pair for Enhanced Oxygen Reduction
1个月前
已采纳
Bidentate Phosphonate Bridges Enable Buried Interface Reconstruction for Thermomechanically Robust Sn–Pb Perovskite Solar Cells
1个月前
已采纳
Synergistic Regulation of Charge Delocalization and Built-In Electric Field in COF-Supported Single-Atom Catalysts for Enhanced H2O2 Photosynthesis
1个月前
已采纳
An M-shape flexible 3D piezoelectric energy harvester simultaneously achieving low-frequency, multi-directional vibration energy harvesting and high-voltage output
1个月前
已采纳
Exploring the potential of green-synthesized hydroxyapatite for cadmium remediation in paddy soils
1个月前
已采纳
Asymmetric Fe–Te Pairs Enhance Peroxymonosulfate Activation via Surface‐Bound Hydroxyl Radicals Pathways
1个月前
已采纳
Selective Late‐Stage Oxygenation of Sulfides with Ground‐State Oxygen by Uranyl Photocatalysis
2个月前
已采纳
Post-nickelation of a crystalline trinuclear copper organic framework for synergistic photocatalytic carbon dioxide conversion
2个月前
已采纳
Local Lattice Regulation in Cesium Copper Halide Phosphors with Record‐Breaking External Quantum Efficiency for WLED and X‐Ray Imaging Applications
3个月前
已采纳
Accelerating SuFEx Reactions via Aryl Fluorosulfate Structural Engineering for Enhanced Covalent Targeted Cancer Therapy
3个月前
已采纳
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