Lv3
240 积分 2025-04-15 加入
Exome Analysis of a New Disease-causing Mutation in a Preterm Neonate with NP-C Disease
15小时前
已关闭
Niemann-Pick Type C 1 (NPC1) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition
1天前
已关闭
Recurrent nonsense p.Trp3416* variant in the DMD gene identified in healthy Lebanese individuals: Implications for variant classification and genotype-phenotype correlations
8天前
已关闭
[Phenotypes and ATP7B gene variants in 316 children with Wilson disease]
21天前
已完结
[Analysis of mutations and haplotypes of polymorphic markers in patients with Wilson-Konovalov disease from Bashkir]
22天前
已关闭
[Analysis of clinical phenotypes and ATP7B gene variants in 75 children patients with Wilson' s disease]
22天前
已完结
[Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA]
22天前
已完结
STK11 (LKB1) immunohistochemistry is a sensitive and specific marker for STK11 adnexal tumours
1个月前
已完结
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
1个月前
已完结
Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia
1个月前
已关闭
Advantages of ZIFs coated core-shell catalyst in activating persulfate to degrade antibiotics: free radical identification and surface collision pathway mechanism
3个月前
已采纳
Effects of Beads and Shot Peening Intensity on the Surface Integrity and Fatigue Performance of a Stainless Gear Steel
3个月前
已采纳
Effects of Beads and Shot Peening Intensity on the Surface Integrity and Fatigue Performance of a Stainless Gear Steel
3个月前
已撤回
Complement regulators as novel targets for anti-cancer therapy: A comprehensive review
3个月前
已采纳
Low-temperature Solid-state Reaction Synthesis of SrY2O4 with High Near-infrared Reflectance and Low Thermal Conductivity
3个月前
已采纳
Vicinal effect on chlorination of diols
3个月前
已采纳
A New Era for Complement Therapeutics
3个月前
已采纳
Coupled effect of filler and countersurface roughness on the tribological performance of the PEEK-PTFE-steel hybrid wear system
3个月前
已采纳
Vegetation dynamics in Mainland Southeast Asia: Climate and anthropogenic influences
3个月前
已采纳
Serum levels of bone turnover markers including calculation of Z-scores: Data from a Dutch healthy reference cohort
3个月前
已采纳
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