Hasil Pencarian - Nuo Si

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  1. 1
    A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family

    A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family oleh Zixun Song, Nuo Si, Wei Xiao

    Diterbitkan 2018-10-01
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  2. 2
    Transcriptomic analysis of the upper lip and primary palate development in mice

    Transcriptomic analysis of the upper lip and primary palate development in mice oleh Sini Cai, Nuo Si, Yanyang Wang, Ningbei Yin

    Diterbitkan 2023-01-01
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  3. 3
    Generation of a human induced pluripotent stem cell line (PSHi002-A) from a Treacher-Collins syndrome patient carrying a TCOF1 gene mutation (c.1966_1969dup)

    Generation of a human induced pluripotent stem cell line (PSHi002-A) from a Treacher-Collins syndrome patient carrying a TCOF1 gene mutation (c.1966_1969dup) oleh Zeya Zhang, Nuo Si, Bo Pan, Haiyue Jiang

    Diterbitkan 2021-08-01
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  4. 4
    Identification of a Novel Four and a Half LIM Domain 1 Mutation in a Chinese Male Presented with Hypertrophic Cardiomyopathy and Mild Skeletal Muscle Hypertrophy

    Identification of a Novel Four and a Half LIM Domain 1 Mutation in a Chinese Male Presented with Hypertrophic Cardiomyopathy and Mild Skeletal Muscle Hypertrophy oleh Bing-Qing Zhang, Nuo Si, Dong-Fang Liu

    Diterbitkan 2015-01-01
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  5. 5
    A 105 kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype

    A 105 kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype oleh Nuo Si, Xiaolu Meng, Zhen Zhao, Weibo Xia, Xue Zhang

    Diterbitkan 2019-04-01
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  6. 6
    Clinical and genetic findings in patients with congenital cataract and heart diseases

    Clinical and genetic findings in patients with congenital cataract and heart diseases oleh Xinru Li, Nuo Si, Zixun Song, Yaqiong Ren, Wei Xiao

    Diterbitkan 2021-05-01
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  7. 7
    Generation of an induced pluripotent stem cell line from a congenital microtia patient with 4p16.1 microduplication involving the long-range enhancer of HMX1

    Generation of an induced pluripotent stem cell line from a congenital microtia patient with 4p16.1 microduplication involving the long-range enhancer of HMX1 oleh Nuo Si, Zeya Zhang, Xiaolu Meng, Xin Huang, Changchen Wang, Bo Pan

    Diterbitkan 2021-05-01
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  8. 8
    Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease

    Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease oleh Nuo Si, Ke Zheng, Jie Ma, Xiao-Lu Meng, Xue-Mei Li, Xue Zhang

    Diterbitkan 2017-01-01
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  9. 9
    De novo 22q11.2 deletions and auricular findings in two Chinese patients with microtia

    De novo 22q11.2 deletions and auricular findings in two Chinese patients with microtia oleh Nuo Si, Zeya Zhang, Xin Huang, Chanchen Wang, Peipei Guo, Bo Pan, Haiyue Jiang

    Diterbitkan 2022-01-01
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  10. 10
    17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype

    17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotyp... oleh Yuqi Shen, Nuo Si, Zhe Liu, Fang Liu, Xiaolu Meng, Ying Zhang, Xue Zhang

    Diterbitkan 2018-07-01
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  11. 11
    Identification of a Novel Mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H Syndrome

    Identification of a Novel Mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H Syndrome oleh Jia-Wei Liu, Nuo Si, Lian-Qing Wang, Ti Shen, Xue-Jun Zeng, Xue Zhang, Dong-Lai Ma

    Diterbitkan 2015-01-01
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  12. 12
    Slc20a2-Deficient Mice Exhibit Multisystem Abnormalities and Impaired Spatial Learning Memory and Sensorimotor Gating but Normal Motor Coordination Abilities

    Slc20a2-Deficient Mice Exhibit Multisystem Abnormalities and Impaired Spatial Learning Memory and Sensorimotor Gating but Normal Motor Coordination Abilities oleh Yaqiong Ren, Yuqi Shen, Nuo Si, Shiqi Fan, Yi Zhang, Wanhai Xu, Lei Shi, Lei Shi, Xue Zhang, Xue Zhang

    Diterbitkan 2021-04-01
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  13. 13
    The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature

    The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature oleh Ru-Xuan Chen, Lei Zhang, Wei Ye, Yu-Bing Wen, Nuo Si, Hang Li, Ming-Xi Li, Xue-Mei Li, Ke Zheng

    Diterbitkan 2018-05-01
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  14. 14
    Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies

    Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies oleh Chaoxia Lu, Wei Wu, Fang Liu, Kunqi Yang, Jiacheng Li, Yaping Liu, Rongrong Wang, Nuo Si, Peng Gao, Yongtai Liu, Shuyang Zhang, Xue Zhang

    Diterbitkan 2018-08-01
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  15. 15
    Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia

    Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia oleh Nuo Si, Xiaolu Meng, Xiaosheng Lu, Zhe Liu, Zhan Qi, Lianqing Wang, Chuan Li, Meirong Yang, Ye Zhang, Changchen Wang, Peipei Guo, Lingdong Zhu, Lei Liu, Zhengyong Li, Zhenyu Zhang, Zhen Cai, Bo Pan, Haiyue Jiang, Xue Zhang

    Diterbitkan 2020-06-01
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