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- [1] A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathiaBMC PEDIATRICS, 2024, 24 (01)Chang, Guoying论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Dept Clin Res Ward, Shanghai Childrens Med Ctr, Sch Med, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R ChinaYang, Fan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Clin Res Ward, Shanghai Childrens Med Ctr, Sch Med, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R ChinaYing, Lingwen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R ChinaZhang, Qianwen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R ChinaFeng, Biyun论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R ChinaChen, Yao论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R ChinaDing, Yu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R ChinaYu, Tingting论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Med Genet, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Mol Diagnost Lab, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R ChinaYao, Ruen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Med Genet, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Mol Diagnost Lab, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R ChinaLin, Kana论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Clin Res Ctr, Shanghai Childrens Med Ctr, Sch Med, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R ChinaLi, Juan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R ChinaWang, Xiumin论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Dept Endocrinol & Metab, 1678 Dongfang Rd, Shanghai 200127, Peoples R China
- [2] A novel splice-site variant in the MCPH1 gene manifests with autosomal recessive primary microcephalyNEUROLOGY ASIA, 2022, 27 (03) : 807 - 811Kocaaga, Ayca论文数: 0 引用数: 0 h-index: 0机构: Eskisehir City Hosp, Dept Med Genet, Eskisehir, Turkey Eskisehir City Hosp, Med Genet Dept, 71 Evler Mahallesi, TR-26080 Odunpazari Eskisehir, Turkey Eskisehir City Hosp, Dept Med Genet, Eskisehir, TurkeyYimenicioglu, Sevgi论文数: 0 引用数: 0 h-index: 0机构: Eskisehir City Hosp, Dept Pediat Neurol, Eskisehir, Turkey Eskisehir City Hosp, Dept Med Genet, Eskisehir, Turkey