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- [41] Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and MicrophthalmiaFRONTIERS IN GENETICS, 2018, 9Tarilonte, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, Spain Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, SpainMorin, Matias论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Ramon y Cajal, Inst Ramon y Cajal Invest Sanitaria, Serv Genet, Madrid, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis, Madrid, Spain Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, SpainRamos, Patricia论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, Spain Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, SpainGaldos, Marta论文数: 0 引用数: 0 h-index: 0机构: Cruces Univ Hosp, Dept Ophthalmol, Bilbao, Spain Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, SpainBlanco-Kelly, Fiona论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis, Madrid, Spain Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, SpainVillaverde, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis, Madrid, Spain Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, SpainRey-Zamora, Dolores论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Ramon y Cajal, Inst Ramon y Cajal Invest Sanitaria, Serv Genet, Madrid, Spain Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, SpainRebolleda, Gema论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Ramon y Cajal, Inst Ramon y Cajal Invest Sanitaria, Dept Glaucoma, Madrid, Spain Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, SpainMunoz-Negrete, Francisco J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Ramon y Cajal, Inst Ramon y Cajal Invest Sanitaria, Dept Glaucoma, Madrid, Spain Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, SpainTahsin-Swafiri, Saoud论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis, Madrid, Spain Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, SpainGener, Blanca论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis, Madrid, Spain Cruces Univ Hosp, BioCruces Hlth Res Inst, Dept Genet, Bilbao, Spain Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, SpainMoreno-Pelayo, Miguel-Angel论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Ramon y Cajal, Inst Ramon y Cajal Invest Sanitaria, Serv Genet, Madrid, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis, Madrid, Spain Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, SpainAyuso, Carmen论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis, Madrid, Spain Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, SpainVillamar, Manuela论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Ramon y Cajal, Inst Ramon y Cajal Invest Sanitaria, Serv Genet, Madrid, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis, Madrid, Spain Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, SpainCorton, Marta论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis, Madrid, Spain Univ Autonoma Madrid, Univ Hosp, Fdn Jimenez Diaz, Dept Genet & Genom,Inst Invest Sanitaria, Madrid, Spain
- [42] A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridiaOPHTHALMIC GENETICS, 2018, 39 (04) : 428 - 436Liu, Xiaoqi论文数: 0 引用数: 0 h-index: 0机构: Sichuan Acad Med Sci, Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sch Med, Sichuan Prov Peoples Hosp, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Ctr Informat Biomed, Chengdu, Sichuan, Peoples R China Southwest Jiaotong Univ, Sch Mat Sci & Engn, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaWu, Yaqi论文数: 0 引用数: 0 h-index: 0机构: Sichuan Acad Med Sci, Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sch Med, Sichuan Prov Peoples Hosp, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Ctr Informat Biomed, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaMiao, Zequn论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Minist Educ, Peoples Hosp, Dept Ophthalmol,Key Lab Vis Loss & Restorat, Beijing, Peoples R China Beijing Key Lab Diag & Therapy Retinal & Choroid, Beijing, Peoples R China Peking Univ, Hlth Sci Ctr, Coll Optometry, 49 North Garden Rd, Beijing 100191, Peoples R China Peking Univ, Peoples Hosp, Ctr Optometry, 49 North Garden Rd, Beijing 100191, Peoples R China Sichuan Acad Med Sci, Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaZhang, Houbin论文数: 0 引用数: 0 h-index: 0机构: Sichuan Acad Med Sci, Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sch Med, Sichuan Prov Peoples Hosp, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Ctr Informat Biomed, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaGong, Bo论文数: 0 引用数: 0 h-index: 0机构: Sichuan Acad Med Sci, Key Lab 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h-index: 0机构: Sichuan Acad Med Sci, Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sch Med, Sichuan Prov Peoples Hosp, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaMa, Shi论文数: 0 引用数: 0 h-index: 0机构: Sichuan Acad Med Sci, Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sch Med, Sichuan Prov Peoples Hosp, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaLin, He论文数: 0 引用数: 0 h-index: 0机构: Sichuan Acad Med Sci, Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sch Med, Sichuan Prov Peoples Hosp, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaWang, Lejin论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Minist Educ, Peoples Hosp, Dept 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