Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders by Shanshan Xu, Yanjie Fan, Yu Sun, Lili Wang, Xuefan Gu, Yongguo Yu

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A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis by Xia Wang, Yingcan Wang, Ting Xu, Yanjie Fan, Yifeng Ding, Jihong Qian

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Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports by Xiaomei Luo, Jiacheng Hu, Xueren Gao, Yanjie Fan, Yu Sun, Xuefan Gu, Wenjuan Qiu

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A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome by Xia Zhang, Yanjie Fan, Xiaomin Liu, Ming-Ang Zhu, Yu Sun, Hui Yan, Yunjuan He, Xiantao Ye, Xuefan Gu, Yongguo Yu

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Chromosomal microarray analysis in fetuses with high-risk prenatal indications: A retrospective study in China by Xiaomei Luo, Hong Zhu, Lili Wang, Bing Xiao, Yanjie Fan, Hui Ye, Xiaomin Ying, Wenjuan Qiu, Huiwen Zhang, Lianshu Han, Xuefan Gu, Yongguo Yu, Lei Wang

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Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions by Yanjie Fan, Yanming Wu, Lili Wang, Yu Wang, Zhuwen Gong, Wenjuan Qiu, Jingmin Wang, Huiwen Zhang, Xing Ji, Jun Ye, Lianshu Han, Xingming Jin, Yongnian Shen, Fei Li, Bing Xiao, Lili Liang, Xia Zhang, Xiaomin Liu, Xuefan Gu, Yongguo Yu

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