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- [21] Two Children With Steroid-Resistant Significant Proteinuria Due to Nonsense Mutations of the TRIM8 Gene: A Case Report and Literature ReviewFRONTIERS IN PEDIATRICS, 2022, 10Li, Xiaojie论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Affiliated Jinling Hosp, Med Sch, Nanjing, Peoples R China Nanjing Univ, Affiliated Jinling Hosp, Med Sch, Nanjing, Peoples R ChinaWei, Yaqin论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Jinling Hosp, Sch Clin Med 1, Dept Pediat, Nanjing, Peoples R China Nanjing Univ, Affiliated Jinling Hosp, Med Sch, Nanjing, Peoples R ChinaWang, Meiqiu论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Affiliated Jinling Hosp, Med Sch, Nanjing, Peoples R China Nanjing Univ, Affiliated Jinling Hosp, Med Sch, Nanjing, Peoples R ChinaJia, Lili论文数: 0 引用数: 0 h-index: 0机构: Jinling Hosp, Dept Pediat, Nanjing, Peoples R China Nanjing Univ, Affiliated Jinling Hosp, Med Sch, Nanjing, Peoples R ChinaShi, Zhuo论文数: 0 引用数: 0 h-index: 0机构: Jinling Hosp, Dept Pediat, Nanjing, Peoples R China Nanjing Univ, Affiliated Jinling Hosp, Med Sch, Nanjing, Peoples R ChinaYang, Xiao论文数: 0 引用数: 0 h-index: 0机构: Jinling Hosp, Dept Pediat, Nanjing, Peoples R China Nanjing Univ, Affiliated Jinling Hosp, Med Sch, Nanjing, Peoples R ChinaJu, Tao论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Jinling Hosp, Dept Pediat, Nanjing, Peoples R China Nanjing Univ, Affiliated Jinling Hosp, Med Sch, Nanjing, Peoples R ChinaKuang, Qianhuining论文数: 0 引用数: 0 h-index: 0机构: Jinling Hosp, Dept Pediat, Nanjing, Peoples R China Nanjing Univ, Affiliated Jinling Hosp, Med Sch, Nanjing, Peoples R ChinaXia, Zhengkun论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Affiliated Jinling Hosp, Med Sch, Nanjing, Peoples R China Southern Med Univ, Jinling Hosp, Sch Clin Med 1, Dept Pediat, Nanjing, Peoples R China Jinling Hosp, Dept Pediat, Nanjing, Peoples R China Nanjing Med Univ, Jinling Hosp, Dept Pediat, Nanjing, Peoples R China Nanjing Univ, Affiliated Jinling Hosp, Med Sch, Nanjing, Peoples R ChinaGao, Chunlin论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Affiliated Jinling Hosp, Med Sch, Nanjing, Peoples R China Southern Med Univ, Jinling Hosp, Sch Clin Med 1, Dept Pediat, Nanjing, Peoples R China Jinling Hosp, Dept Pediat, Nanjing, Peoples R China Nanjing Med Univ, Jinling Hosp, Dept Pediat, Nanjing, Peoples R China Nanjing Univ, Affiliated Jinling Hosp, Med Sch, Nanjing, Peoples R China
- [22] Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain CalcificationFRONTIERS IN GENETICS, 2021, 12Shen, Yuqi论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R ChinaShu, Shi论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R China CAMS&PUMC, Peking Union Med Coll Hosp PUMCH, Dept Neurol, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R ChinaRen, Yaqiong论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R ChinaXia, Weibo论文数: 0 引用数: 0 h-index: 0机构: CAMS&PUMC, PUMCH, Dept Endocrinol, Key Lab Endocrinol,Minist Hlth, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R ChinaChen, Jianhua论文数: 0 引用数: 0 h-index: 0机构: CAMS&PUMC, Peking Union Med Coll Hosp PUMCH, Dept Neurol, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R ChinaDong, Liling论文数: 0 引用数: 0 h-index: 0机构: CAMS&PUMC, Peking Union Med Coll Hosp PUMCH, Dept Neurol, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R ChinaGe, Haijun论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R ChinaFan, Shiqi论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R ChinaShi, Lei论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R China Harbin Med Univ, Natl Hlth Commiss NHC, Harbin, Peoples R China Harbin Med Univ, CAMS Key Lab Mol Probe & Targeted Theranost, Harbin, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R ChinaPeng, Bin论文数: 0 引用数: 0 h-index: 0机构: CAMS&PUMC, Peking Union Med Coll Hosp PUMCH, Dept Neurol, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R ChinaZhang, Xue论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R China Harbin Med Univ, Natl Hlth Commiss NHC, Harbin, Peoples R China Harbin Med Univ, CAMS Key Lab Mol Probe & Targeted Theranost, Harbin, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll CAMS, Inst Basic Med Sci, State Key Lab Med Mol Biol, McKusick Zhang Ctr Genet Med, Beijing, Peoples R China
- [23] Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children – a case report with a reviewBMC Pediatrics, 19Jayesh Sheth论文数: 0 引用数: 0 h-index: 0机构: FRIGE’s Institute of Human Genetics,Akash Patel论文数: 0 引用数: 0 h-index: 0机构: FRIGE’s Institute of Human Genetics,Raju Shah论文数: 0 引用数: 0 h-index: 0机构: FRIGE’s Institute of Human Genetics,Riddhi Bhavsar论文数: 0 引用数: 0 h-index: 0机构: FRIGE’s Institute of Human Genetics,Sunil Trivedi论文数: 0 引用数: 0 h-index: 0机构: FRIGE’s Institute of Human Genetics,Frenny Sheth论文数: 0 引用数: 0 h-index: 0机构: FRIGE’s Institute of Human Genetics,
- [24] Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a reviewBMC PEDIATRICS, 2019, 19 (1)Sheth, Jayesh论文数: 0 引用数: 0 h-index: 0机构: FRIGEs Inst Human Genet, FRIGE House,Jodhpur Gam Rd, Ahmadabad 380015, Gujarat, India FRIGEs Inst Human Genet, FRIGE House,Jodhpur Gam Rd, Ahmadabad 380015, Gujarat, IndiaPatel, Akash论文数: 0 引用数: 0 h-index: 0机构: FRIGEs Inst Human Genet, FRIGE House,Jodhpur Gam Rd, Ahmadabad 380015, Gujarat, India FRIGEs Inst Human Genet, FRIGE House,Jodhpur Gam Rd, Ahmadabad 380015, Gujarat, IndiaShah, Raju论文数: 0 引用数: 0 h-index: 0机构: Ankur Inst Child Hlth, Behind City Gold Cinema,Ashram Rd, Ahmadabad 380009, Gujarat, India FRIGEs Inst Human Genet, FRIGE House,Jodhpur Gam Rd, Ahmadabad 380015, Gujarat, IndiaBhavsar, Riddhi论文数: 0 引用数: 0 h-index: 0机构: FRIGEs Inst Human Genet, FRIGE House,Jodhpur Gam Rd, Ahmadabad 380015, Gujarat, India FRIGEs Inst Human Genet, FRIGE House,Jodhpur Gam Rd, Ahmadabad 380015, Gujarat, IndiaTrivedi, Sunil论文数: 0 引用数: 0 h-index: 0机构: FRIGEs Inst Human Genet, FRIGE House,Jodhpur Gam Rd, Ahmadabad 380015, Gujarat, India FRIGEs Inst Human Genet, FRIGE House,Jodhpur Gam Rd, Ahmadabad 380015, Gujarat, IndiaSheth, Frenny论文数: 0 引用数: 0 h-index: 0机构: FRIGEs Inst Human Genet, FRIGE House,Jodhpur Gam Rd, Ahmadabad 380015, Gujarat, India FRIGEs Inst Human Genet, FRIGE House,Jodhpur Gam Rd, Ahmadabad 380015, Gujarat, India