Search Results - Zailong Qin

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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Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature by Qiang Zhang, Zailong Qin, Shang Yi, Hao Wei, Xun Zhao Zhou, Jiasun Su

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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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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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A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5 by Wei Li, Xin Fan, Yue Zhang, Limei Huang, Tingting Jiang, Zailong Qin, Jiasun Su, Jingrong Luo, Shang Yi, Shujie Zhang, Yiping Shen

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Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations by Qi Yang, Sheng Yi, Mengting Li, Bobo Xie, Jinsi Luo, Jin Wang, Xiuliang Rong, Qinle Zhang, Zailong Qin, Limei Hang, Shihan Feng, Xin Fan

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