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[Clinical and genetic characterization of three families with Nance-Horan syndrome caused by NHS gene mutations]
1个月前
已完结
A case of LSS‐associated congenital nuclear cataract with hypotrichosis and literature review
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Alport Syndrome
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[Clinical and genetic characterization of three families with Nance-Horan syndrome caused by NHS gene mutations]
2个月前
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Sequencing of 19,219 exomes identifies a low-frequency variant in FKBP5 promoter predisposing to high myopia in a Han Chinese population
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[Identification of a novel variant of NHS gene underlying Nance-Horan syndrome]
3个月前
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Single Nucleotide Polymorphism (rs7543472) in EPHA2 gene is associated with Age-related Cataract in subjects enrolled from Multan in Southern Punjab: a case-control study
3个月前
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EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia
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Broadening the genotypic and phenotypic spectrum of MAF in three Chinese Han congenital cataracts families
3个月前
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Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract
3个月前
已完结
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