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170 积分 2025-05-13 加入
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy
1天前
已完结
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants
1个月前
已完结
The Trouble with Trabeculation: How Genetics Can Help to Unravel a Complex and Controversial Phenotype
1个月前
已完结
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
1个月前
已完结
Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome
1个月前
已完结
Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants
2个月前
已完结
Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease
2个月前
已关闭
Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients
2个月前
已完结
Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model
2个月前
已完结
Molecular basis of von Hippel-Lindau syndrome in Chinese patients
3个月前
已关闭
Chitosan-Polyphenol Conjugates for Human Health
2个月前
已采纳
Effects of pond depth and water temperature on the growth, mortality and body composition of Nile tilapia, Oreochromis niloticus (L.)
3个月前
已采纳
Design of a Double-joint Robotic Fish Using a Composite Linkage
3个月前
已驳回
The validity of psychophysiological detection of information with the Guilty Knowledge Test: A meta-analytic review
3个月前
已采纳
Quantitative multi‐spectral oxygen saturation measurements independent of tissue optical properties
4个月前
已采纳
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