Hasil Pencarian - Jingsi Luo

Perbaiki Hasil
  1. 1
    Identification of a novel FERMT1 variant causing kindler syndrome and a review of the clinical and molecular genetic features in Chinese patients

    Identification of a novel FERMT1 variant causing kindler syndrome and a review of the clinical and molecular genetic features in Chinese patients oleh Qiang Zhang, Qiang Zhang, Qiang Zhang, Qiang Zhang, Qiang Zhang, Qi Yang, Qi Yang, Qi Yang, Qi Yang, Fei Shen, Fei Shen, Fei Shen, Fei Shen, Linlin Wang, Linlin Wang, Linlin Wang, Linlin Wang, Jingsi Luo, Jingsi Luo, Jingsi Luo, Jingsi Luo

    Diterbitkan 2024-09-01
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  2. 2
    Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome

    Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome oleh Qi Yang, Qi Yang, Di Gong, Shang Yi, Shang Yi, Jingsi Luo, Jingsi Luo, Qinle Zhang, Qinle Zhang, Qinle Zhang

    Diterbitkan 2023-06-01
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  3. 3
    A novel variant in NSUN2 causes intellectual disability in a Chinese family

    A novel variant in NSUN2 causes intellectual disability in a Chinese family oleh Qi Yang, Qiang Zhang, Zailong Qin, Shang Yi, Jingsi Luo

    Diterbitkan 2024-04-01
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  4. 4
    Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2

    Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2 oleh Qi Yang, Qi Yang, Qiang Zhang, Qiang Zhang, Sheng Yi, Sheng Yi, Shujie Zhang, Shujie Zhang, Shang Yi, Shang Yi, Xunzhao Zhou, Xunzhao Zhou, Zailong Qin, Zailong Qin, Biyan Chen, Biyan Chen, Jingsi Luo, Jingsi Luo, Jingsi Luo

    Diterbitkan 2024-01-01
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  5. 5
    Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene

    Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene oleh Qiang Zhang, Qi Yang, Xunzhao Zhou, Zailong Qin, Shang Yi, Jingsi Luo

    Diterbitkan 2022-11-01
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  6. 6
    Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing

    Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing oleh Qi Yang, Zailong Qin, Qinle Zhang, Shang Yi, Sheng Yi, Jingsi Luo

    Diterbitkan 2022-03-01
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  7. 7
    Detection of gonosomal mosaicism by ultra‐deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy

    Detection of gonosomal mosaicism by ultra‐deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy oleh Yanshu Xie, Jingsi Luo, Jingzi Zhong, Xu Liu, Jing Tang, Dan Lan

    Diterbitkan 2023-06-01
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  8. 8
    Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature

    Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature oleh Zailong Qin, Qi Yang, Shang Yi, Limei Huang, Yiping Shen, Jingsi Luo

    Diterbitkan 2020-12-01
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  9. 9
    Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia

    Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia oleh Mengting Li, Qi Yang, Sheng Yi, Zailong Qin, Jingsi Luo, Xin Fan

    Diterbitkan 2020-08-01
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  10. 10
    Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patients

    Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patients oleh Qi Yang, Qi Yang, Xunzhao Zhou, Xunzhao Zhou, Sheng Yi, Sheng Yi, XiaoLing Li, Qiang Zhang, Qiang Zhang, Shujie Zhang, Shujie Zhang, Li Lin, Li Lin, Shang Yi, Shang Yi, Biyan Chen, Biyan Chen, Zailong Qin, Zailong Qin, Jingsi Luo, Jingsi Luo, Jingsi Luo

    Diterbitkan 2024-09-01
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  11. 11
    Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation

    Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 v... oleh Qiang Zhang, Qi Yang, Jingsi Luo, Xunzhao Zhou, Shang Yi, Shuyin Tan, Zailong Qin

    Diterbitkan 2024-01-01
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  12. 12
    De Novo CSNK2B Mutations in Five Cases of Poirier–Bienvenu Neurodevelopmental Syndrome

    De Novo CSNK2B Mutations in Five Cases of Poirier–Bienvenu Neurodevelopmental Syndrome oleh Qi Yang, Qi Yang, Qinle Zhang, Qinle Zhang, Shang Yi, Shang Yi, Zailong Qin, Zailong Qin, Fei Shen, Fei Shen, Shang Ou, Shang Ou, Jingsi Luo, Jingsi Luo, Sheng He, Sheng He

    Diterbitkan 2022-03-01
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  13. 13
    Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report

    Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report oleh Xianglian Tang, Sheng Yi, Zailong Qin, Shang Yi, Junjie Chen, Qi Yang, Shanshan Li, Jingsi Luo

    Diterbitkan 2024-01-01
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  14. 14
    Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review

    Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review oleh Qi Yang, Qiang Zhang, Zailong Qin, Shujie Zhang, Sheng Yi, Shang Yi, Qinle Zhang, Jingsi Luo

    Diterbitkan 2023-06-01
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  15. 15
    Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant

    Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant oleh Qi Yang, Xunzhao Zhou, Yeying Ling, Qiang Zhang, Shang Yi, Qiuli Chen, Shujie Zhang, Zailong Qin, Jingsi Luo

    Diterbitkan 2024-03-01
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  16. 16
    Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia

    Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia oleh Qi Yang, Hong Xu, Jingsi Luo, Mengting Li, Sheng Yi, Qinle Zhang, Guoxing Geng, Shihan Feng, Xin Fan

    Diterbitkan 2020-04-01
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  17. 17
    Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormality

    Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormality... oleh Qi Yang, Shan Ou, Xunzhao Zhou, Sheng Yi, Li Lin, Shang Yi, Shujie Zhang, Zailong Qin, Jingsi Luo

    Diterbitkan 2024-02-01
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  18. 18
    Appropriate whole genome amplification and pathogenic loci detection can improve the accuracy of preimplantation genetic diagnosis for deletional α-thalassemia

    Appropriate whole genome amplification and pathogenic loci detection can improve the accuracy of preimplantation genetic diagnosis for deletional α-thalassemia oleh Yueyun Lan, Yueyun Lan, Yueyun Lan, Yueyun Lan, Hong Zhou, Hong Zhou, Sheng He, Sheng He, Sheng He, Sheng He, Sheng He, Sheng He, Jinhui Shu, Jinhui Shu, Lifang Liang, Lifang Liang, Lifang Liang, Lifang Liang, Lifang Liang, Hongwei Wei, Hongwei Wei, Hongwei Wei, Hongwei Wei, Hongwei Wei, Hongwei Wei, Jingsi Luo, Jingsi Luo, Jingsi Luo, Jingsi Luo, Caizhu Wang, Caizhu Wang, Xin Zhao, Xin Zhao, Qingming Qiu, Qingming Qiu, Qingming Qiu, Qingming Qiu, Qingming Qiu, Peng Huang, Peng Huang, Peng Huang, Peng Huang, Peng Huang

    Diterbitkan 2024-03-01
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  19. 19
    PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus

    PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus oleh Qi Yang, Rong Hua, Jiale Qian, Shang Yi, Fei Shen, Qiang Zhang, Mengting Li, Sheng Yi, Jingsi Luo, Xin Fan

    Diterbitkan 2020-03-01
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  20. 20
    Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing‐site variant and a missense variant in the ROBO3 gene

    Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing‐site variant and a missense variant in the ROBO3 gene oleh Sheng Yi, Zailong Qin, Xunzhao Zhou, Junjie Chen, Shang Yi, Qiuli Chen, Limei Huang, Qinle Zhang, Biyan Chen, Jingsi Luo

    Diterbitkan 2023-09-01
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