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- [1] Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetusBMC Medical Genomics, 15Qiuling Zhao论文数: 0 引用数: 0 h-index: 0机构: The Second Affiliated Hospital of Chongqing Medical University,Department of Gynecology and ObstetricsXiaoduo Li论文数: 0 引用数: 0 h-index: 0机构: The Second Affiliated Hospital of Chongqing Medical University,Department of Gynecology and ObstetricsLi Liu论文数: 0 引用数: 0 h-index: 0机构: The Second Affiliated Hospital of Chongqing Medical University,Department of Gynecology and ObstetricsXu Zhang论文数: 0 引用数: 0 h-index: 0机构: The Second Affiliated Hospital of Chongqing Medical University,Department of Gynecology and ObstetricsXin Pan论文数: 0 引用数: 0 h-index: 0机构: The Second Affiliated Hospital of Chongqing Medical University,Department of Gynecology and ObstetricsHong Yao论文数: 0 引用数: 0 h-index: 0机构: The Second Affiliated Hospital of Chongqing Medical University,Department of Gynecology and ObstetricsYongyi Ma论文数: 0 引用数: 0 h-index: 0机构: The Second Affiliated Hospital of Chongqing Medical University,Department of Gynecology and ObstetricsBo Tan论文数: 0 引用数: 0 h-index: 0机构: The Second Affiliated Hospital of Chongqing Medical University,Department of Gynecology and Obstetrics
- [2] Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetusBMC MEDICAL GENOMICS, 2022, 15 (01)Zhao, Qiuling论文数: 0 引用数: 0 h-index: 0机构: Chongqing Med Univ, Affiliated Hosp 2, Dept Gynecol & Obstet, Chongqing, Peoples R China Third Mil Med Univ, Army Med Univ, Southwest Hosp, Inst Pathol, Chongqing, Peoples R China Chongqing Med Univ, Affiliated Hosp 2, Dept Gynecol & Obstet, Chongqing, Peoples R ChinaLi, Xiaoduo论文数: 0 引用数: 0 h-index: 0机构: Qijiang Maternal & Child Hlth Hosp, Chongqing, Peoples R China Chongqing Med Univ, Affiliated Hosp 2, Dept Gynecol & Obstet, Chongqing, Peoples R ChinaLiu, Li论文数: 0 引用数: 0 h-index: 0机构: Chongqing Med Univ, Affiliated Hosp 2, Dept Gynecol & Obstet, Chongqing, Peoples R China Chongqing Med Univ, Affiliated Hosp 2, Dept Gynecol & Obstet, Chongqing, Peoples R ChinaZhang, Xu论文数: 0 引用数: 0 h-index: 0机构: Chongqing Med Univ, Affiliated Hosp 2, Dept Gynecol & Obstet, Chongqing, Peoples R China Chongqing Med Univ, Affiliated Hosp 2, Dept Gynecol & Obstet, Chongqing, Peoples R ChinaPan, Xin论文数: 0 引用数: 0 h-index: 0机构: Chongqing Med Univ, Affiliated Hosp 2, Dept Gynecol & Obstet, Chongqing, Peoples R China Chongqing Med Univ, Affiliated Hosp 2, Dept Gynecol & Obstet, Chongqing, Peoples R ChinaYao, Hong论文数: 0 引用数: 0 h-index: 0机构: Chongqing Med Univ, Affiliated Hosp 2, Dept Gynecol & Obstet, Chongqing, Peoples R China Chongqing Med Univ, Affiliated Hosp 2, Dept Gynecol & Obstet, Chongqing, Peoples R ChinaMa, Yongyi论文数: 0 引用数: 0 h-index: 0机构: Third Mil Med Univ, Army Med Univ, Southwest Hosp, Dept Gynecol & Obstet, Chongqing, Peoples R China Chongqing Med Univ, Affiliated Hosp 2, Dept Gynecol & Obstet, Chongqing, Peoples R ChinaTan, Bo论文数: 0 引用数: 0 h-index: 0机构: Chongqing Med Univ, Affiliated Hosp 2, Dept Gynecol & Obstet, Chongqing, Peoples R China Chongqing Med Univ, Affiliated Hosp 2, Dept Gynecol & Obstet, Chongqing, Peoples R China
- [3] Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIIICLINICA CHIMICA ACTA, 2017, 464 : 170 - 175Huang, Yanru论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaMei, Libin论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaLv, Weigang论文数: 0 引用数: 0 h-index: 0机构: Hunan Jiahui Genet Hosp, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaLi, Haoxian论文数: 0 引用数: 0 h-index: 0机构: Hunan Jiahui Genet Hosp, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaZhang, Rui论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaPan, Qian论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Hunan Jiahui Genet Hosp, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaTan, Hu论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaGuo, Jing论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaLuo, Xiaomei论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaChen, Chen论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaLiang, Desheng论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Hunan Jiahui Genet Hosp, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R ChinaWu, Lingqian论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Hunan Jiahui Genet Hosp, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China Cent S Univ, State Key Lab Med Genet, 110 Xiangya Rd, Changsha 410078, Hunan, Peoples R China
- [4] Whole-exome sequencing identifies compound heterozygous LHX4 mutations in a fetus with early-onset growth restrictionEUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, 2017, 211 : 225 - 227Lu, Yue-Cheng论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Guangzhou, Guangdong, Peoples R China Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Guangzhou, Guangdong, Peoples R ChinaHuang, Lv-Ying论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Guangzhou, Guangdong, Peoples R China Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Guangzhou, Guangdong, Peoples R ChinaYan, Jin-Mei论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Guangzhou, Guangdong, Peoples R China Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Guangzhou, Guangdong, Peoples R ChinaZhang, Yi论文数: 0 引用数: 0 h-index: 0机构: Euler Genom, Beijing, Peoples R China Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Guangzhou, Guangdong, Peoples R ChinaLi, Dong-Zhi论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Guangzhou, Guangdong, Peoples R China Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Guangzhou, Guangdong, Peoples R China
- [5] Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsyCLINICA CHIMICA ACTA, 2019, 493 : 87 - 91Mei, Libin论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R China Xiamen Key Lab Reprod & Genet, Xiamen, Peoples R China Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R ChinaHuang, Yanru论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Xiamen, Genet Lab, Xiamen 361003, Peoples R China Xiamen Key Lab Reprod & Genet, Xiamen, Peoples R China Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R ChinaChen, Jing论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R China Xiamen Key Lab Reprod & Genet, Xiamen, Peoples R China Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R ChinaHe, XueMei论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R China Xiamen Key Lab Reprod & Genet, Xiamen, Peoples R China Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R ChinaLin, Shaobin论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R China Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R ChinaLiao, Luying论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R China Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R ChinaWang, XiaoYan论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R China Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R ChinaHuang, XianJing论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R China Xiamen Key Lab Reprod & Genet, Xiamen, Peoples R China Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R ChinaSha, Yanwei论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R China Xiamen Key Lab Reprod & Genet, Xiamen, Peoples R China Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R ChinaJi, Zhiyong论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R China Xiamen Key Lab Reprod & Genet, Xiamen, Peoples R China Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R ChinaLi, Ping论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R China Xiamen Key Lab Reprod & Genet, Xiamen, Peoples R China Maternal & Child Hlth Hosp Xiamen, Ctr Reprod Med, Xiamen 361003, Peoples R China
- [6] Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney diseaseCHINESE MEDICAL JOURNAL, 2012, 125 (14) : 2482 - 2486Zhang Da论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Key Lab Endocrinol, Minist Hlth,Peking Union Med Coll Hosp, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Key Lab Endocrinol, Minist Hlth,Peking Union Med Coll Hosp, Beijing 100730, Peoples R ChinaLu Lin论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Key Lab Endocrinol, Minist Hlth,Peking Union Med Coll Hosp, Beijing 100730, Peoples R China Peking Union Med Coll, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Key Lab Endocrinol, Minist Hlth,Peking Union Med Coll Hosp, Beijing 100730, Peoples R ChinaYang Hong-bo论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Key Lab Endocrinol, Minist Hlth,Peking Union Med Coll Hosp, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Key Lab Endocrinol, Minist Hlth,Peking Union Med Coll Hosp, 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, Key Lab Endocrinol, Minist Hlth,Peking Union Med Coll Hosp, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Key Lab Endocrinol, Minist Hlth,Peking Union Med Coll Hosp, Beijing 100730, Peoples R ChinaSun Hao论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Radiol, Peking Union Med Coll Hosp, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Key Lab Endocrinol, Minist Hlth,Peking Union Med Coll Hosp, Beijing 100730, Peoples R ChinaZeng Zheng-pei论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Key Lab Endocrinol, Minist Hlth,Peking Union Med Coll Hosp, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Key Lab Endocrinol, Minist Hlth,Peking Union Med Coll Hosp, Beijing 100730, Peoples R ChinaLi Xin-ping论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Key Lab Endocrinol, Minist Hlth,Peking Union Med Coll Hosp, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Key Lab Endocrinol, Minist Hlth,Peking Union Med Coll Hosp, Beijing 100730, Peoples R ChinaXia Wei-bo论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Key Lab Endocrinol, Minist Hlth,Peking Union Med Coll Hosp, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Key Lab Endocrinol, Minist Hlth,Peking Union Med Coll Hosp, Beijing 100730, Peoples R ChinaXing Xiao-ping论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Dept Endocrinol, Key Lab Endocrinol, Minist Hlth,Peking Union Med Coll Hosp, Beijing 100730, Peoples R China Chinese Acad Med Sci, Dept Endocrinol, Key Lab Endocrinol, Minist Hlth,Peking Union Med Coll Hosp, Beijing 100730, Peoples R China
- [7] Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosaGENE, 2013, 528 (02) : 178 - 182Chacon-Camacho, Oscar F.论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol Conde Valenciana, Mexico City 06700, DF, Mexico Inst Ophthalmol Conde Valenciana, Mexico City 06700, DF, MexicoJitsldi, Serguei论文数: 0 引用数: 0 h-index: 0机构: Mexico Vis Fund, Retinal Pathol Treatment Ctr, Nezahualcoyott, Mexico Inst Ophthalmol Conde Valenciana, Mexico City 06700, DF, MexicoBuentello-Volante, Beatriz论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol Conde Valenciana, Mexico City 06700, DF, Mexico Inst Ophthalmol Conde Valenciana, Mexico City 06700, DF, MexicoQuevedo-Martinez, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol Conde Valenciana, Mexico City 06700, DF, Mexico Inst Ophthalmol Conde Valenciana, Mexico City 06700, DF, MexicoZenteno, Juan C.论文数: 0 引用数: 0 h-index: 0机构: Inst Ophthalmol Conde Valenciana, Mexico City 06700, DF, Mexico Univ Nacl Autonoma Mexico, Dept Biochem, Fac Med, Mexico City, DF, Mexico Inst Ophthalmol Conde Valenciana, Mexico City 06700, DF, Mexico
- [8] Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis PigmentosaPLOS ONE, 2012, 7 (05):Wang, Yun论文数: 0 引用数: 0 h-index: 0机构: W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Dept Ophthalmol, Chengdu, Sichuan Provinc, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R ChinaGuo, Liheng论文数: 0 引用数: 0 h-index: 0机构: W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Dept Ophthalmol, Chengdu, Sichuan Provinc, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R ChinaCai, Su-Ping论文数: 0 引用数: 0 h-index: 0机构: Jinan Univ, Shenzhen Eye Hosp, Shenzhen, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R ChinaDai, Meizhi论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Guangdong, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R ChinaYang, Qiaona论文数: 0 引用数: 0 h-index: 0机构: W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Dept Ophthalmol, Chengdu, Sichuan Provinc, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R ChinaYu, Wenhan论文数: 0 引用数: 0 h-index: 0机构: W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Dept Ophthalmol, Chengdu, Sichuan Provinc, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R ChinaYan, Naihong论文数: 0 引用数: 0 h-index: 0机构: W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Dept Ophthalmol, Chengdu, Sichuan Provinc, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R ChinaZhou, Xiaomin论文数: 0 引用数: 0 h-index: 0机构: W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Dept Ophthalmol, Chengdu, Sichuan Provinc, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R ChinaFu, Jin论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Guangdong, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R ChinaGuo, Xinwu论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Guangdong, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R ChinaHan, Pengfei论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Guangdong, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R ChinaWang, Jun论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Guangdong, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R ChinaLiu, Xuyang论文数: 0 引用数: 0 h-index: 0机构: Jinan Univ, Shenzhen Eye Hosp, Shenzhen, Peoples R China W China Hosp, Translat Neurosci Ctr, State Key Lab Biotherapy, Ophthalm Labs, Chengdu, Sichuan Provinc, Peoples R China
- [9] Whole-Exome Sequencing Identifies Compound Heterozygous Mutations in WDR62 in Siblings With Recurrent PolymicrogyriaAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (09) : 2071 - 2077Murdock, David R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USAClark, Gary D.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol & Dev Neurosci, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USABainbridge, Matthew N.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USANewsham, Irene论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USAWu, Yuan-Qing论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USAMuzny, Donna M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USACheung, Sau Wai论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USAGibbs, Richard A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USARamocki, Melissa B.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Child Neurol & Dev Neurosci, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA
- [10] Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathyEUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (01)Li, Kun论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Union Hosp, Tongji Med Coll, Dept Pediat, Wuhan 430022, Peoples R China Huazhong Univ Sci & Technol, Union Hosp, Tongji Med Coll, Dept Pediat, Wuhan 430022, Peoples R ChinaJin, Runming论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Union Hosp, Tongji Med Coll, Dept Pediat, Wuhan 430022, Peoples R China Huazhong Univ Sci & Technol, Union Hosp, Tongji Med Coll, Dept Pediat, Wuhan 430022, Peoples R ChinaWu, Xiaoyan论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Union Hosp, Tongji Med Coll, Dept Pediat, Wuhan 430022, Peoples R China Huazhong Univ Sci & Technol, Union Hosp, Tongji Med Coll, Dept Pediat, Wuhan 430022, Peoples R China