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Lv4
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550 积分
2024-07-16 加入
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Whole-exome Sequencing Screening for Candidate Genes and Variants Associated with Primary Sporadic Keratoconus in Chinese Patients
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Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics: Implications for Precision Medicine—Brief Report
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Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (γ308Asn→Thr)
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Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C
2个月前
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A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
3个月前
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Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system
4个月前
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Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis
4个月前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
5个月前
已完结
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