Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients por Shiyang Gao, Qianwen Zhang, Yu Ding, Libo Wang, Zhiying Li, Feihan Hu, Ru-en Yao, Tingting Yu, Guoying Chang, Xiumin Wang

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Correction: A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia por Guoying Chang, Fan Yang, Lingwen Ying, Qianwen Zhang, Biyun Feng, Yao Chen, Yu Ding, Tingting Yu, Ruen Yao, Kana Lin, Juan Li, Xiumin Wang

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Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia por Guoying Chang, Lingwen Ying, Qianwen Zhang, Biyun Feng, Ruen Yao, Yu Ding, Juan Li, Xiaodong Huang, Yongnian Shen, Tingting Yu, Jian Wang, Xiumin Wang

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A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia por Guoying Chang, Fan Yang, Lingwen Ying, Qianwen Zhang, Biyun Feng, Yao Chen, Yu Ding, Tingting Yu, Ruen Yao, Kana Lin, Juan Li, Xiumin Wang

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Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital... por Niu Li, Yufei Xu, Hongzhu Chen, Jingqi Lin, Lama AlAbdi, Mir Reza Bekheirnia, Guoqiang Li, Yoel Gofin, Nasim Bekheirnia, Eissa Faqeih, Lina Chen, Guoying Chang, Jie Tang, Ruen Yao, Tingting Yu, Xiumin Wang, Wei Fu, Qihua Fu, Yiping Shen, Fowzan S. Alkuraya, Keren Machol, Jian Wang

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