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- [31] A rare mutation in exon 7 of the NOTCH3 gene in a Chinese CADASIL family: Case report with a literature reviewNEUROLOGY ASIA, 2022, 27 (04) : 1035 - 1040Ni, Fei-Lin论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Chinese Med Univ, Affiliated Hosp 1, Zhejiang Prov Hosp Chinese Med, Dept Neurol, Hangzhou, Peoples R China Zhejiang Chinese Med Univ, Affiliated Hosp 1, Zhejiang Prov Hosp Chinese Med, Dept Neurol, Hangzhou, Peoples R ChinaDai, Jian-Feng论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Chinese Med Univ, Affiliated Hosp 1, Zhejiang Prov Hosp Chinese Med, Dept Neurol, Hangzhou, Peoples R China Zhejiang Chinese Med Univ, Affiliated Hosp 1, Zhejiang Prov Hosp Chinese Med, Dept Neurol, Hangzhou, Peoples R ChinaZhang, Wei -Jun论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Chinese Med Univ, Affiliated Hosp 1, Zhejiang Prov Hosp Chinese Med, Dept Neurol, Hangzhou, Peoples R China Zhejiang Chinese Med Univ, Affiliated Hosp 1, Zhejiang Prov Hosp Chinese Med, Dept Neurol, Hangzhou, Peoples R ChinaHou, Qun论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Chinese Med Univ, Affiliated Hosp 1, Zhejiang Prov Hosp Chinese Med, Dept Neurol, Hangzhou, Peoples R China Zhejiang Chinese Med Univ, Affiliated Hosp 1, Zhejiang Prov Hosp Chinese Med, Dept Neurol, Hangzhou, Peoples R ChinaZhang, Juan论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Chinese Med Univ, Affiliated Hosp 1, Zhejiang Prov Hosp Chinese Med, Dept Neurol, Hangzhou, Peoples R China Zhejiang Chinese Med Univ, Affiliated Hosp 1, Zhejiang Prov Hosp Chinese Med, Dept Neurol, 54 Youdian Rd, Hangzhou 310006, Zhejiang, Peoples R China Zhejiang Chinese Med Univ, Affiliated Hosp 1, Zhejiang Prov Hosp Chinese Med, Dept Neurol, Hangzhou, Peoples R China
- [32] Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case reportBMC Neurology, 18Xiaoqian Zhang论文数: 0 引用数: 0 h-index: 0机构: Union Hospital,Department of NeurologyLei Zhang论文数: 0 引用数: 0 h-index: 0机构: Union Hospital,Department of NeurologyYanqing Wu论文数: 0 引用数: 0 h-index: 0机构: Union Hospital,Department of NeurologyGang Li论文数: 0 引用数: 0 h-index: 0机构: Union Hospital,Department of NeurologyShengcai Chen论文数: 0 引用数: 0 h-index: 0机构: Union Hospital,Department of NeurologyYuanpeng Xia论文数: 0 引用数: 0 h-index: 0机构: Union Hospital,Department of NeurologyHongge Li论文数: 0 引用数: 0 h-index: 0机构: Union Hospital,Department of Neurology
- [33] A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (06):Yi, Sheng论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaZhang, Yue论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaQin, Zailong论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaYi, Shang论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaZheng, Haiyang论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaLuo, Jingsi论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaLi, Qifei论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaWang, Jin论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaYang, Qi论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaLi, Mengting论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaChen, Fei论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaZhang, Qiang论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaZhang, Qinle论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaShen, Yiping论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Mol Diagnost Lab, Shanghai, Peoples R China Boston Childrens Hosp, Div Genet & Genom, Boston, MA USA Harvard Med Sch, Dept Neurol, Boston, MA 02115 USA Childrens Hosp Guangxi Zhuang Autonomous Reg, Maternal & Child Hlth Hosp, Birth Defect Prevent Res Inst, Genet & Metab Cent Lab, Nanning, Peoples R China
- [34] Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case reportFRONTIERS IN PEDIATRICS, 2024, 12Baltar, Federico论文数: 0 引用数: 0 h-index: 0机构: Univ Republica, Fac Med, Unidad Academ Neuropediat, Montevideo, Uruguay Univ Republica, Fac Med, Dept Genet, Montevideo, Uruguay Univ Republica, Fac Med, Unidad Academ Neuropediat, Montevideo, UruguaySimoes, Camila论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur Montevideo, Unidad Bioinformat, Montevideo, Uruguay Univ Republica, Hosp Clin, Fac Med, Dept Bas Med, Montevideo, Uruguay Univ Republica, Fac Med, Unidad Academ Neuropediat, Montevideo, UruguayGaragorry, Francisco论文数: 0 引用数: 0 h-index: 0机构: Univ Republica, Hosp Clin, Unidad Academ Anat Patol, Fac Med, Montevideo, Uruguay Univ Republica, Fac Med, Unidad Academ Neuropediat, Montevideo, UruguayGrana, Martin论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur Montevideo, Unidad Bioinformat, Montevideo, Uruguay Univ Republica, Fac Med, Unidad Academ Neuropediat, Montevideo, UruguayRodriguez, Soledad论文数: 0 引用数: 0 h-index: 0机构: Univ Republica, Fac Med, Dept Genet, Montevideo, Uruguay Univ Republica, Fac Med, Unidad Academ Neuropediat, Montevideo, UruguayAunchayna, Maria Haydee论文数: 0 引用数: 0 h-index: 0机构: Univ Republica, Hosp Clin, Unidad Academ Anat Patol, Fac Med, Montevideo, Uruguay Univ Republica, Fac Med, Unidad Academ Neuropediat, Montevideo, UruguayTapie, Alejandra论文数: 0 引用数: 0 h-index: 0机构: Univ Republica, Fac Med, Dept Genet, Montevideo, Uruguay Univ Republica, Fac Med, Unidad Academ Neuropediat, Montevideo, UruguayCerisola, Alfredo论文数: 0 引用数: 0 h-index: 0机构: Univ Republica, Fac Med, Unidad Academ Neuropediat, Montevideo, Uruguay Univ Republica, Fac Med, Unidad Academ Neuropediat, Montevideo, UruguayGonzalez, Gabriel论文数: 0 引用数: 0 h-index: 0机构: Univ Republica, Fac Med, Unidad Academ Neuropediat, Montevideo, Uruguay Univ Republica, Fac Med, Unidad Academ Neuropediat, Montevideo, UruguayNaya, Hugo论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur Montevideo, Unidad Bioinformat, Montevideo, Uruguay Univ Republica, Fac Agron, Dept Prod Anim & Pasturas, Montevideo, Uruguay Univ Republica, Fac Med, Unidad Academ Neuropediat, Montevideo, UruguaySpangenberg, Lucia论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur Montevideo, Unidad Bioinformat, Montevideo, Uruguay Univ Republica, Hosp Clin, Fac Med, Dept Bas Med, Montevideo, Uruguay Univ Republica, Fac Med, Unidad Academ Neuropediat, Montevideo, UruguayRaggio, Victor论文数: 0 引用数: 0 h-index: 0机构: Univ Republica, Fac Med, Dept Genet, Montevideo, Uruguay Univ Republica, Fac Med, Unidad Academ Neuropediat, Montevideo, Uruguay
- [35] Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case reportBMC MEDICAL GENETICS, 2020, 21 (01)Bui, Thi Phuong Hoa论文数: 0 引用数: 0 h-index: 0机构: Vinmec Times City Int Hosp Times City, Dept Med Genet, Hanoi, Vietnam Vinmec Times City Int Hosp Times City, Dept Med Genet, Hanoi, VietnamNguyen, Ngoc Tu论文数: 0 引用数: 0 h-index: 0机构: Vinmec Times City Int Hosp Times City, Dept Fetal Med, Hanoi, Vietnam Vinmec Times City Int Hosp Times City, Dept Med Genet, Hanoi, VietnamNgo, Van Doan论文数: 0 引用数: 0 h-index: 0机构: Vinmec Times City Int Hosp Times City, Dept Diagnost Imaging, Hanoi, Vietnam Vinmec Times City Int Hosp Times City, Dept Med Genet, Hanoi, VietnamNguyen, Hoai-Nghia论文数: 0 引用数: 0 h-index: 0机构: Univ Med & Pharm, Ctr Mol Med, Ho Chi Minh City, Vietnam Vinmec Times City Int Hosp Times City, Dept Med Genet, Hanoi, VietnamLy, Thi Thanh Ha论文数: 0 引用数: 0 h-index: 0机构: Vinmec Times City Int Hosp Times City, Dept Med Genet, Hanoi, Vietnam Vinmec Times City Int Hosp Times City, Dept Med Genet, Hanoi, VietnamDo, Huy Duong论文数: 0 引用数: 0 h-index: 0机构: Vinmec Times City Int Hosp Times City, Dept Med Genet, Hanoi, Vietnam Vinmec Times City Int Hosp Times City, Dept Med Genet, Hanoi, VietnamHuynh, Minh-Tuan论文数: 0 引用数: 0 h-index: 0机构: Vinmec Times City Int Hosp Times City, Dept Med Genet, Hanoi, Vietnam Vinmec Times City Int Hosp Times City, Dept Med Genet, Hanoi, Vietnam
- [36] Case Report: The compound heterozygotes variants in FLT4 causes autosomal recessive hereditary lymphedema in a Chinese familyFRONTIERS IN GENETICS, 2023, 14Xiang, Qinqin论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Obstet & Gynecol, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Med Genet, Chengdu, Sichuan, Peoples R China Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Obstet & Gynecol, Chengdu, Sichuan, Peoples R ChinaChen, Jing论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Obstet & Gynecol, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Med Genet, Chengdu, Sichuan, Peoples R China Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Obstet & Gynecol, Chengdu, Sichuan, Peoples R ChinaXiao, Xiao论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Obstet & Gynecol, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Med Genet, Chengdu, Sichuan, Peoples R China Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Obstet & Gynecol, Chengdu, Sichuan, Peoples R ChinaXu, Bocheng论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Obstet & Gynecol, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Med Genet, Chengdu, Sichuan, Peoples R China Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Obstet & Gynecol, Chengdu, Sichuan, Peoples R ChinaXie, Hanbing论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Obstet & Gynecol, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Med Genet, Chengdu, Sichuan, Peoples R China Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Obstet & Gynecol, Chengdu, Sichuan, Peoples R ChinaWang, He论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Obstet & Gynecol, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Med Genet, Chengdu, Sichuan, Peoples R China Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Obstet & Gynecol, Chengdu, Sichuan, Peoples R ChinaYang, Mei论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Obstet & Gynecol, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Med Genet, Chengdu, Sichuan, Peoples R China Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Obstet & Gynecol, Chengdu, Sichuan, Peoples R ChinaLiu, Shanling论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Obstet & Gynecol, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Med Genet, Chengdu, Sichuan, Peoples R China Sichuan Univ, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Sichuan, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Obstet & Gynecol, Chengdu, Sichuan, Peoples R China
- [37] Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case ReportFRONTIERS IN GENETICS, 2020, 11Chen, Xiaohong论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Endocrinol & Metab, Wuhan Childrens Hosp, Tongji Med Coll, Wuhan, Peoples R China Huazhong Univ Sci & Technol, Dept Endocrinol & Metab, Wuhan Childrens Hosp, Tongji Med Coll, Wuhan, Peoples R ChinaHan, Lin论文数: 0 引用数: 0 h-index: 0机构: Running Gene Inc, Beijing, Peoples R China Huazhong Univ Sci & Technol, Dept Endocrinol & Metab, Wuhan Childrens Hosp, Tongji Med Coll, Wuhan, Peoples R ChinaYao, Hui论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Endocrinol & Metab, Wuhan Childrens Hosp, Tongji Med Coll, Wuhan, Peoples R China Huazhong Univ Sci & Technol, Dept Endocrinol & Metab, Wuhan Childrens Hosp, Tongji Med Coll, Wuhan, Peoples R China
- [38] Case Report: A Novel Mutation in the CRYGD Gene Causing Congenital Cataract Associated with Nystagmus in a Chinese FamilyFRONTIERS IN GENETICS, 2022, 13Gao, Yunxia论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Hosp, Dept Ophthalmol, Ophthalm Lab, Chengdu, Peoples R China Sichuan Univ, West China Hosp, Dept Ophthalmol, Ophthalm Lab, Chengdu, Peoples R ChinaRen, Xiang论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Hosp, Dept Ophthalmol, Ophthalm Lab, Chengdu, Peoples R China Sichuan Univ, West China Hosp, Res Lab Ophthalmol & Vis Sci, State Key Lab Biotherapy, Chengdu, Peoples R China Sichuan Univ, West China Hosp, Dept Ophthalmol, Ophthalm Lab, Chengdu, Peoples R ChinaFu, Xiangyu论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Hosp, Dept Ophthalmol, Ophthalm Lab, Chengdu, Peoples R China Sichuan Univ, West China Hosp, Res Lab Ophthalmol & Vis Sci, State Key Lab Biotherapy, Chengdu, Peoples R China Sichuan Univ, West China Hosp, Dept Ophthalmol, Ophthalm Lab, Chengdu, Peoples R ChinaLin, Yu论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Hosp, Dept Ophthalmol, Ophthalm Lab, Chengdu, Peoples R China Sichuan Univ, West China Hosp, Res Lab Ophthalmol & Vis Sci, State Key Lab Biotherapy, Chengdu, Peoples R China Sichuan Univ, West China Hosp, Dept Ophthalmol, Ophthalm Lab, Chengdu, Peoples R ChinaXiao, Lirong论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Hosp, Res Lab Ophthalmol & Vis Sci, State Key Lab Biotherapy, Chengdu, Peoples R China Sichuan Univ, West China Hosp, Dept Ophthalmol, Ophthalm Lab, Chengdu, Peoples R ChinaWang, Xiaoyue论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Hosp, Dept Ophthalmol, Ophthalm Lab, Chengdu, Peoples R China Sichuan Univ, West China Hosp, Dept Ophthalmol, Ophthalm Lab, Chengdu, Peoples R ChinaYan, Naihong论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Hosp, Res Lab Ophthalmol & Vis Sci, State Key Lab Biotherapy, Chengdu, Peoples R China Sichuan Univ, West China Hosp, Dept Ophthalmol, Ophthalm Lab, Chengdu, Peoples R ChinaZhang, Ming论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Hosp, Dept Ophthalmol, Ophthalm Lab, Chengdu, Peoples R China Sichuan Univ, West China Hosp, Dept Ophthalmol, Ophthalm Lab, Chengdu, Peoples R China
- [39] A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case reportBMC MEDICAL GENOMICS, 2023, 16 (01)Yan, Lulu论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Cent Lab Birth Defects Prevent & Control, Ningbo 315000, Zhejiang, Peoples R China Ningbo Women & Childrens Hosp, Cent Lab Birth Defects Prevent & Control, Ningbo 315000, Zhejiang, Peoples R ChinaHe, Yan论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Dept Pediat, Ningbo 315000, Zhejiang, Peoples R China Ningbo Women & Childrens Hosp, Cent Lab Birth Defects Prevent & Control, Ningbo 315000, Zhejiang, Peoples R ChinaZhang, Yuxin论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Cent Lab Birth Defects Prevent & Control, Ningbo 315000, Zhejiang, Peoples R China Ningbo Women & Childrens Hosp, Cent Lab Birth Defects Prevent & Control, Ningbo 315000, Zhejiang, Peoples R ChinaLiu, Yingwen论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Cent Lab Birth Defects Prevent & Control, Ningbo 315000, Zhejiang, Peoples R China Ningbo Women & Childrens Hosp, Cent Lab Birth Defects Prevent & Control, Ningbo 315000, Zhejiang, Peoples R ChinaXu, Limin论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Dept Pediat, Ningbo 315000, Zhejiang, Peoples R China Ningbo Women & Childrens Hosp, Cent Lab Birth Defects Prevent & Control, Ningbo 315000, Zhejiang, Peoples R ChinaHan, Chunxiao论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Cent Lab Birth Defects Prevent & Control, Ningbo 315000, Zhejiang, Peoples R China Ningbo Women & Childrens Hosp, Cent Lab Birth Defects Prevent & Control, Ningbo 315000, Zhejiang, Peoples R ChinaZhao, Yudan论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Dept Pediat, Ningbo 315000, Zhejiang, Peoples R China Ningbo Women & Childrens Hosp, Cent Lab Birth Defects Prevent & Control, Ningbo 315000, Zhejiang, Peoples R ChinaLi, Haibo论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Cent Lab Birth Defects Prevent & Control, Ningbo 315000, Zhejiang, Peoples R China Ningbo Women & Childrens Hosp, Cent Lab Birth Defects Prevent & Control, Ningbo 315000, Zhejiang, Peoples R China
- [40] Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case reportWORLD JOURNAL OF CLINICAL CASES, 2023, 11 (14) : 3288 - 3294Wang, Jie论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ Tradit Chinese Med, Shandong Prov Qianfoshan Hosp, Dept Neurol, Jinan 250014, Shandong Provin, Peoples R China Shandong Univ Tradit Chinese Med, Shandong Prov Qianfoshan Hosp, Dept Neurol, Jinan 250014, Shandong Provin, Peoples R ChinaBu, Wei-Ting论文数: 0 引用数: 0 h-index: 0机构: Weifang Med Univ, Shandong Prov Qianfoshan Hosp, Dept Neurol, Jinan 250014, Shandong Provin, Peoples R China Shandong Univ Tradit Chinese Med, Shandong Prov Qianfoshan Hosp, Dept Neurol, Jinan 250014, Shandong Provin, Peoples R ChinaZhu, Mei-Jia论文数: 0 引用数: 0 h-index: 0机构: Shandong First Med Univ, Dept Neurol, Affiliated Hosp 1, Jinan 250014, Shandong Provin, Peoples R China Shandong Prov Qianfoshan Hosp, Jinan 250014, Shandong Provin, Peoples R China Shandong Univ Tradit Chinese Med, Shandong Prov Qianfoshan Hosp, Dept Neurol, Jinan 250014, Shandong Provin, Peoples R ChinaTang, Ji-You论文数: 0 引用数: 0 h-index: 0机构: Shandong First Med Univ, Dept Neurol, Affiliated Hosp 1, Jinan 250014, Shandong Provin, Peoples R China Shandong Prov Qianfoshan Hosp, Jinan 250014, Shandong Provin, Peoples R China Shandong Univ Tradit Chinese Med, Shandong Prov Qianfoshan Hosp, Dept Neurol, Jinan 250014, Shandong Provin, Peoples R ChinaLiu, Xiao-Min论文数: 0 引用数: 0 h-index: 0机构: Shandong First Med Univ, Dept Neurol, Affiliated Hosp 1, Jinan 250014, Shandong Provin, Peoples R China Shandong Prov Qianfoshan Hosp, Jinan 250014, Shandong Provin, Peoples R China Shandong First Med Univ, Dept Neurol, Affiliated Hosp 1, 16766 Jingshi Rd, Jinan 250014, Shandong Provin, Peoples R China Shandong Prov Qianfoshan Hosp, 16766 Jingshi Rd, Jinan 250014, Shandong Provin, Peoples R China Shandong Univ Tradit Chinese Med, Shandong Prov Qianfoshan Hosp, Dept Neurol, Jinan 250014, Shandong Provin, Peoples R China