Search Results - Jingsi Luo

Identification of a novel FERMT1 variant causing kindler syndrome and a review of the clinical and molecular genetic features in Chinese patients by 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

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

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

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

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

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Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patients by 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

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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... by Qiang Zhang, Qi Yang, Jingsi Luo, Xunzhao Zhou, Shang Yi, Shuyin Tan, Zailong Qin

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

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

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