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LeeJYn
Lv1
60 积分
2023-08-16 加入
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Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
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Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
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Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
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Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation
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Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review
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[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening]
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Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
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Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
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