• 遗传嗜中白血球减少一种染色体隐性遗传疾病疾病导致成体粒细胞无法骨髓迁移血液中。

    Trapped Neutrophil Syndrome is an autosomal recessive disease which results in mature neutrophils being unable to migrate from the bone marrow into the blood.

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  • 沉积肌病细胞内脂肪异常沉积引起染色体隐性遗传病

    Lipid storage myopathy is one kind of autosomal recessive inherited disease with lipid abnormally sludging in the muscle cell.

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  • 甘油激酶缺乏症GKD)是一种少见的X染色体隐性遗传代谢缺陷病,分为单纯型复合型

    Glycerol kinase deficiency (GKD), a rare X-linked recessive disorder, is classified into two types: isolated and complex.

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  • 遗传无纤维蛋白原血症一种由于纤维蛋白原基因缺陷所致常染色体隐性遗传病。

    Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen.

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  • 广泛焦虑校正分离为0.225,染色体隐性遗传分离率0.25相比较,差异显著P>0.05);

    The segregative rate in generalized anxiety disorder was 0.225, which was not significantly different (P>0.05) from the segregation rate 0.25 in autosome recessive inheritance.

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  • 进行家族内胆汁淤积(PFIC组常染色体隐性遗传细胞源儿童胆汁淤积症。

    Progressive familial intrahepatic choleatasia(PFIC)is an autosomal recessive inherited children liver cholestasis characterized by severe jaundice and pruritus.

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  • 结果:①ATD一种少见染色体隐性遗传软骨发育不良疾病

    Result: ATD is an uncommon autosomal recessive hereditary disorder of osteochondrodysplasia.

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  • 丑角鱼鳞染色体隐性遗传鱼鳞病严重亚型

    Harlequin ichthyosis ( HI ) is a severe subtype of autosomal recessive congenital ichthyoses ( ARCI ) .

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  • 染色体隐性遗传多囊婴儿型多囊肾,为多囊肾少见类型

    Autosomal recessive polycystic kidney disease also known as infantile polycystic kidney disease, polycystic kidney in the rare type.

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  • 儿童型脊髓萎缩常见遗传神经肌肉病,为常染色体隐性遗传

    Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance.

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  • 儿童型脊髓萎缩常见遗传神经肌肉病,为常染色体隐性遗传

    Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance.

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