Hasil Pencarian - Fengyu Che

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  1. 1
    Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family

    Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family oleh Jiangang Zhao, Yao An, Haoxiang Jiang, Haibin Wu, Fengyu Che, Ying Yang

    Diterbitkan 2021-05-01
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  2. 2
    A Novel Heterozygous Pathogenic Variation in CYCS Gene Cause Autosomal Dominant Non-Syndromic Thrombocytopenia 4 in a Large Chinese Family

    A Novel Heterozygous Pathogenic Variation in CYCS Gene Cause Autosomal Dominant Non-Syndromic Thrombocytopenia 4 in a Large Chinese Family oleh Fengyu Che, Jiangang Zhao, Yujuan Zhao, Zhi Wang, Liyu Zhang, Ying Yang

    Diterbitkan 2022-01-01
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  3. 3
    Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype–phenotype correlations

    Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype–phenotype correlations oleh Liyu Zhang, Xiaoling Tie, Fengyu Che, Guoxia Wang, Ying Ge, Benchang Li, Ying Yang

    Diterbitkan 2023-06-01
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  4. 4
    Identification of two novel variants of the BCL11B gene in two Chinese pedigrees associated with neurodevelopmental disorders

    Identification of two novel variants of the BCL11B gene in two Chinese pedigrees associated with neurodevelopmental disorders oleh Fengyu Che, Xiaoling Tie, Hong Lei, Xi Zhang, Mingyue Duan, Liyu Zhang, Ying Yang

    Diterbitkan 2022-09-01
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  5. 5
    Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism

    Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism oleh Ye Lin, Xihui Chen, Ying Yang, Fengyu Che, Sijia Zhang, Lijuan Yuan, Yuanming Wu

    Diterbitkan 2019-07-01
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  6. 6
    First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations

    First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations oleh Siyu Zhao, Fengyu Che, Le Yang, Yanyan Zheng, Dong Wang, Ying Yang, Yan Wang

    Diterbitkan 2022-09-01
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  7. 7
    Establishment of a novel human induced pluripotent stem cell line (SIPDi001-A) with compound heterozygous mutations in the UBR7 gene from a Li-Campeau syndrome patient

    Establishment of a novel human induced pluripotent stem cell line (SIPDi001-A) with compound heterozygous mutations in the UBR7 gene from a Li-Campeau syndrome patient oleh Benchang Li, Yafei Zhou, Fengyu Che, Rui Zhou, Lidangzhi Mo, Liyu Zhang, Guoxia Wang, Ying Yang

    Diterbitkan 2023-09-01
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  8. 8
    A GD2-aptamer-mediated, self-assembling nanomedicine for targeted multiple treatments in neuroblastoma theranostics

    A GD2-aptamer-mediated, self-assembling nanomedicine for targeted multiple treatments in neuroblastoma theranostics oleh Liyu Zhang, Meng Wang, Zeen Zhu, Shengquan Chen, Haibin Wu, Ying Yang, Fengyu Che, Qiao Li, Hui Li

    Diterbitkan 2021-12-01
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