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- [31] A Recurrent Mutation c.617G>A in the ACVR1 Gene Causes Fibrodysplasia Ossificans Progressiva in Two Chinese PatientsCALCIFIED TISSUE INTERNATIONAL, 2009, 84 (05) : 361 - 365Sun, Yue论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R ChinaXia, Weibo论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R ChinaJiang, Yan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R ChinaXing, Xiaoping论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R ChinaLi, Mei论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R ChinaWang, Ou论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R ChinaZhang, Huabing论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R ChinaHu, Yingying论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R ChinaLiu, Huaicheng论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R ChinaMeng, Xunwu论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R ChinaZhou, Xueying论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Peking Union Med Coll Hosp, Key Lab Endocrinol,Minist Hlth, Beijing 100730, Peoples R China
- [32] An exon 5 mutation (c.425G>C, p.Gly141Ala) in the SOD1 gene in a Chinese family associated with incomplete penetranceAMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2020, 21 (5-6) : 473 - 476Dong, Si-Qi论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaLiu, Xiao-Ni论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China Fudan Univ, Inst Neurol, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaYang, Wen-Bo论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaZhou, Yan-Ni论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China Fudan Univ, Sch Life Sci, Dept Anthropol & Human Genet, Shanghai, Peoples R China Fudan Univ, Human Phenome Inst, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaWang, Jiu-Cun论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Sch Life Sci, Dept Anthropol & Human Genet, Shanghai, Peoples R China Fudan Univ, Human Phenome Inst, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R ChinaChen, Xiang-Jun论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China Fudan Univ, Inst Neurol, Shanghai, Peoples R China Fudan Univ, Human Phenome Inst, Shanghai, Peoples R China Fudan Univ, Huashan Hosp, Dept Neurol, 12 Wulumuqi Zhong Rd, Shanghai 200040, Peoples R China
- [33] Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case reportBMC PEDIATRICS, 2017, 17Chen, Jing论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Xiamen, Fujian, Peoples R China Xiamen Maternal & Child Hlth Hosp, Xiamen, Fujian, Peoples R China Maternal & Child Hlth Hosp, Dept Child Hlth, Xiamen, Fujian, Peoples R China Xiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Xiamen, Fujian, Peoples R ChinaMa, Xiaomin论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Care Hosp, Dept Radiol, Xiamen, Fujian, Peoples R China Xiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Xiamen, Fujian, Peoples R ChinaZhou, Yulin论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Xiamen, Fujian, Peoples R China Xiamen Maternal & Child Hlth Hosp, Xiamen, Fujian, Peoples R China Xiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Xiamen, Fujian, Peoples R ChinaLi, Guimei论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Dept Pediat, Shandong Prov Hosp, Jinan, Shandong, Peoples R China Xiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Xiamen, Fujian, Peoples R ChinaGuo, Qiwei论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Xiamen, Fujian, Peoples R China Xiamen Maternal & Child Hlth Hosp, Xiamen, Fujian, Peoples R China Xiamen Univ, Sch Publ Hlth, United Diagnost & Res Ctr Clin Genet, Xiamen, Fujian, Peoples R China
- [34] Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case reportBMC Pediatrics, 17Jing Chen论文数: 0 引用数: 0 h-index: 0机构: School of Public Health of Xiamen University & Xiamen Maternal and Child Health Hospital,United Diagnostic and Research Center for Clinical GeneticsXiaomin Ma论文数: 0 引用数: 0 h-index: 0机构: School of Public Health of Xiamen University & Xiamen Maternal and Child Health Hospital,United Diagnostic and Research Center for Clinical GeneticsYulin Zhou论文数: 0 引用数: 0 h-index: 0机构: School of Public Health of Xiamen University & Xiamen Maternal and Child Health Hospital,United Diagnostic and Research Center for Clinical GeneticsGuimei Li论文数: 0 引用数: 0 h-index: 0机构: School of Public Health of Xiamen University & Xiamen Maternal and Child Health Hospital,United Diagnostic and Research Center for Clinical GeneticsQiwei Guo论文数: 0 引用数: 0 h-index: 0机构: School of Public Health of Xiamen University & Xiamen Maternal and Child Health Hospital,United Diagnostic and Research Center for Clinical Genetics
- [35] A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patientsOrphanet Journal of Rare Diseases, 16Lili Liang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineRuixue Shuai论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineYue Yu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineWenjuan Qiu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineLinghua Shen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineShengnan Wu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineHaiyan Wei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineYongxing Chen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineChiju Yang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicinePeng Xu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineXigui Chen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineHui Zou论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineJizhen Feng论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineTingting Niu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineHaili Hu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineJun Ye论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineHuiwen Zhang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineDeyun Lu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineZhuwen Gong论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineXia Zhan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineWenjun Ji论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineYongguo Yu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineXuefan Gu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of MedicineLianshu Han论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong University,Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine
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- [38] A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patientsORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)Liang, Lili论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R ChinaShuai, Ruixue论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R ChinaYu, Yue论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, 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China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R ChinaChen, Yongxing论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Pediat Endocrinol & Genet, Childrens Hosp, Zhengzhou, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R ChinaYang, Chiju论文数: 0 引用数: 0 h-index: 0机构: Jining Maternal & Child Hlth Care Hosp, Ctr Neonatal Dis Screening, Jining, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R ChinaXu, Peng论文数: 0 引用数: 0 h-index: 0机构: Jining Maternal & Child Hlth Care Hosp, Ctr Neonatal Dis Screening, Jining, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R ChinaChen, Xigui论文数: 0 引用数: 0 h-index: 0机构: Jining Maternal & Child Hlth Care Hosp, Ctr Neonatal Dis Screening, Jining, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R ChinaZou, Hui论文数: 0 引用数: 0 h-index: 0机构: Jinan Maternal & Child Hlth Care Hosp, Ctr Neonatal Dis Screening, Jinan, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R ChinaFeng, Jizhen论文数: 0 引用数: 0 h-index: 0机构: Shijiazhuang Maternal & Child Hlth Care Hosp, Ctr Neonatal Dis Screening, Shijiazhuang, Hebei, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R ChinaNiu, Tingting论文数: 0 引用数: 0 h-index: 0机构: Shandong Maternal & Child Hlth Care Hosp, Ctr Neonatal Dis Screening, Jinan, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R ChinaHu, Haili论文数: 0 引用数: 0 h-index: 0机构: Hefei Maternal & Child Hlth Care 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Endocrinol G, Shanghai, Peoples R ChinaGong, Zhuwen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R ChinaZhan, Xia论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R ChinaJi, Wenjun论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst Pediat Res,Dept Pediat Endocrinol G, Shanghai, Peoples R ChinaYu, Yongguo论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Shanghai Inst 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