Search Results - Nuo Si

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  1. 1

    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) by Zeya Zhang, Nuo Si, Bo Pan, Haiyue Jiang

    Published in Stem Cell Research (2021-08-01)
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  2. 2

    A novel variant of TFAP2A in a familial case of branchio-oculo-facial syndrome: Insights from structural bioinformatics and molecular dynamics simulation by Jingjing Zhao, Nuo Si, Ningbei Yin, Tao Song

    Published in Genes and Diseases (2025-11-01)
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  3. 3

    A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split‐Hand/Foot Malformation 4: A Pedigree Report and Literature Review by Wei Yang, Jian Zhou, Nuo Si, Xue Zhang

    Published in Molecular Genetics & Genomic Medicine (2025-09-01)
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  4. 4

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

    Published in Orphanet Journal of Rare Diseases (2021-05-01)
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  5. 5

    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... by Yuqi Shen, Nuo Si, Zhe Liu, Fang Liu, Xiaolu Meng, Ying Zhang, Xue Zhang

    Published in Orphanet Journal of Rare Diseases (2018-07-01)
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