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280 积分
2024-01-30 加入
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Universal method for robust detection of circadian state from gene expression
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Typical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohort
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Protein C and protein S assessment in hospital laboratories: which strategy and what role for DNA sequencing?
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Identification of new α-galactosidase A mutation responsible for Fabry disease: A case report
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Exome sequencing identifies genes associated with sleep-related traits
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Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress
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Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing
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[Consensus statement on neonatal screening, diagnosis and treatment for glucose-6-phosphate dehydrogenase deficiency]
6个月前
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Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland — genetic and clinical presentation
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[Analysis of molecular pathogenesis and clinical phenotypes in 10 probands with inherited fibrinogen deficiency]
7个月前
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