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    1.Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

    Zong, L, Guan, J, Ea     More...

    JOURNAL OF MEDICAL GENETICS[0022-2593], Published 2015, Volume 52, Issue 8, Pages 523-531

    收錄情况: WOS

    WOS核心合集引用: 89  2024影響因子:  3.7  发表年影響因子:  5.650 

    2.Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma

    Guo, BR, Zhang, X, C     More...

    JOURNAL OF MEDICAL GENETICS[0022-2593], Published 2012, Volume 49, Issue 9, Pages 563-568

    收錄情况: WOS

    WOS核心合集引用: 26  2024影響因子:  3.7  发表年影響因子:  5.703 

    3.Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis

    Zhang, X, Guo, BR, C     More...

    JOURNAL OF MEDICAL GENETICS[0022-2593], Published 2012, Volume 49, Issue 12, Pages 727-730

    收錄情况: WOS

    WOS核心合集引用: 16  2024影響因子:  3.7  发表年影響因子:  5.703 

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