Search Results - Ruen Yao

Neurodevelopmental disorders and anti-epileptic treatment in a patient with a SATB1 mutation: A case report by Ying Yu, Cuiyun Li, Wei Li, Liting Chen, Dan Wang, Jie Wang, Jian Wang, Jian Wang, Ruen Yao, Ruen Yao

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Concurrent de novo MACF1 mutation and inherited 16p13.11 microduplication in a preterm newborn with hypotonia, joint hyperlaxity and multiple congenital malformations: a case repor... by Lanlan Mi, Ruen Yao, Weiwei Guo, Jian Wang, Guoqing Zhang, Xiuxia Ye

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TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report by Xin Li, Qing Cheng, Yu Ding, Qun Li, Ruen Yao, Jian Wang, Xiumin Wang

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Psychomotor development and attention problems caused by a splicing variant of CNKSR2 by Yi Zhang, Tingting Yu, Niu Li, Jiwen Wang, Jian Wang, Yihua Ge, Ruen Yao

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De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype by Yanrui Jiang, Huizhen Sun, Qingmin Lin, Zengge Wang, Guanghai Wang, Jian Wang, Fan Jiang, Ruen Yao

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A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report by Qianwen Zhang, Ruen Yao, Qun Li, Xin Li, Biyun Feng, Guoying Chang, Jian Wang, Xiumin Wang

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Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case rep... by Ruen Yao, Tingting Yu, Yufei Xu, Guoqiang Li, Lei Yin, Yunfang Zhou, Jian Wang, Zhilong Yan

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Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report by Guoqiang Li, Guoying Chang, Chen Wang, Tingting Yu, Niu Li, Xiaodong Huang, Xiumin Wang, Jian Wang, Jiwen Wang, Ruen Yao

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Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the SEPSECS Gene by Tingyu Rong, Tingyu Rong, Tingyu Rong, Ruen Yao, Yujiao Deng, Yujiao Deng, Yujiao Deng, Qingmin Lin, Qingmin Lin, Qingmin Lin, Guanghai Wang, Guanghai Wang, Guanghai Wang, Jian Wang, Fan Jiang, Fan Jiang, Fan Jiang, Yanrui Jiang, Yanrui Jiang, Yanrui Jiang

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