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- [1] Autosomal Recessive Congenital IchthyosisACTAS DERMO-SIFILIOGRAFICAS, 2013, 104 (04): : 270 - 284Rodriguez-Pazos, L.论文数: 0 引用数: 0 h-index: 0机构: Complejo Hospitalario Univ, Fac Med, Dept Dermatol, Santiago De Compostela, Spain Complejo Hospitalario Univ, Fac Med, Dept Dermatol, Santiago De Compostela, SpainGinarte, M.论文数: 0 引用数: 0 h-index: 0机构: Complejo Hospitalario Univ, Fac Med, Dept Dermatol, Santiago De Compostela, Spain Complejo Hospitalario Univ, Fac Med, Dept Dermatol, Santiago De Compostela, SpainVega, A.论文数: 0 引用数: 0 h-index: 0机构: Fdn Publ Galega Med Xenom SERGAS, Grp Med Xenom USC, CIBERER, IDIS, Santiago De Compostela, Spain Complejo Hospitalario Univ, Fac Med, Dept Dermatol, Santiago De Compostela, SpainToribio, J.论文数: 0 引用数: 0 h-index: 0机构: Complejo Hospitalario Univ, Fac Med, Dept Dermatol, Santiago De Compostela, Spain Complejo Hospitalario Univ, Fac Med, Dept Dermatol, Santiago De Compostela, Spain
- [2] Autosomal Recessive Congenital IchthyosisJOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 (06) : 1319 - 1321Fischer, Judith论文数: 0 引用数: 0 h-index: 0机构: CEA, Inst Genom, Ctr Natl Genotypage, F-910057 Evry, France CEA, Inst Genom, Ctr Natl Genotypage, F-910057 Evry, France
- [3] Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosisINTERNATIONAL JOURNAL OF DERMATOLOGY, 2016, 55 (02) : 201 - 207Zhang, San-Quan论文数: 0 引用数: 0 h-index: 0机构: South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R China South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R ChinaLi, Chang-Xing论文数: 0 引用数: 0 h-index: 0机构: South Med Univ, Nanfang Hosp, Dept Dermatol, Guangzhou, Guangdong, Peoples R China Dongguan Inst Dermatol, Dept Dermatol, Dongguan, Peoples R China South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R ChinaGao, Xin-Qian论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Women & Childrens Med Ctr, Dept Dermatol, Guangzhou, Guangdong, Peoples R China South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R ChinaQiu, Wen-Yuan论文数: 0 引用数: 0 h-index: 0机构: Guangdong Sian Hosp, Dept Dermatol, Dongguan, Guangdong, Peoples R China South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R ChinaChen, Quan论文数: 0 引用数: 0 h-index: 0机构: South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R China South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R ChinaLi, Xue-Mei论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Women & Childrens Med Ctr, Dept Dermatol, Guangzhou, Guangdong, Peoples R China South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R ChinaZhou, Xin论文数: 0 引用数: 0 h-index: 0机构: South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R China South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R ChinaTian, Xin论文数: 0 引用数: 0 h-index: 0机构: South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R China South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R ChinaTang, Zhi-Ping论文数: 0 引用数: 0 h-index: 0机构: South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R China South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R ChinaZhao, Tian论文数: 0 引用数: 0 h-index: 0机构: South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R China South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R ChinaZhang, Fang论文数: 0 引用数: 0 h-index: 0机构: South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R China South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R ChinaZhang, Xi-Bao论文数: 0 引用数: 0 h-index: 0机构: South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R China South Med Univ, Nanfang Hosp, Guangzhou Inst Dermatol, Dept Dermatol, Guangzhou, Guangdong, Peoples R China
- [4] Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar AtaxiaPLOS ONE, 2013, 8 (12):Shi, Yuting论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaWang, Junling论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China State Key Lab Med Genet, Changsha, Peoples R China Cent S Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaLi, Jia-Da论文数: 0 引用数: 0 h-index: 0机构: State Key Lab Med Genet, Changsha, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaRen, Haigang论文数: 0 引用数: 0 h-index: 0机构: Soochow Univ, Coll Pharmaceut Sci, Dept Pharmacol, Suzhou, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaGuan, Wenjuan论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaHe, Miao论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaYan, Weiqian论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaZhou, Ying论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaHu, Zhengmao论文数: 0 引用数: 0 h-index: 0机构: State Key Lab Med Genet, Changsha, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaZhang, Jianguo论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China Fudan Univ, T Life Res Ctr, Shanghai 200433, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaXiao, Jingjing论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaSu, Zheng论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaDai, Meizhi论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaWang, Jun论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China Univ Copenhagen, Dept Biol, Copenhagen, Denmark King Abdulaziz Univ, Jeddah 21413, Saudi Arabia Univ Copenhagen, Novo Nordisk Fdn, Ctr Basic Metab Res, Copenhagen, Denmark Aarhus Univ, Ctr iSequencing, Aarhus C, Denmark Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaJiang, Hong论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China State Key Lab Med Genet, Changsha, Peoples R China Cent S Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaGuo, Jifeng论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China State Key Lab Med Genet, Changsha, Peoples R China Cent S Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaZhou, Yafang论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaZhang, Fufeng论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaLi, Nan论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaDu, Juan论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaXu, Qian论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaHu, Yacen论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaPan, Qian论文数: 0 引用数: 0 h-index: 0机构: State Key Lab Med Genet, Changsha, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaShen, Lu论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China State Key Lab Med Genet, Changsha, Peoples R China Cent S Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaWang, Guanghui论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaXia, Kun论文数: 0 引用数: 0 h-index: 0机构: State Key Lab Med Genet, Changsha, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaZhang, Zhuohua论文数: 0 引用数: 0 h-index: 0机构: State Key Lab Med Genet, Changsha, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaTang, Beisha论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China State Key Lab Med Genet, Changsha, Peoples R China Cent S Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R China Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China
- [5] A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis PatientBIOMED RESEARCH INTERNATIONAL, 2014, 2014Vaigundan, D.论文数: 0 引用数: 0 h-index: 0机构: Sri Devaraj Urs Acad Higher Educ & Res, Dept Cell Biol & Mol Genet, Genom & Cent Res Lab, Tamaka 563101, Kolar, India Sri Devaraj Urs Acad Higher Educ & Res, Dept Cell Biol & Mol Genet, Genom & Cent Res Lab, Tamaka 563101, Kolar, IndiaKalmankar, Neha V.论文数: 0 引用数: 0 h-index: 0机构: Indian Inst Sci, Mol Biophys Unit, Bangalore 560012, Karnataka, India Natl Ctr Biol Sci, Bangalore 560065, Karnataka, India Sri Devaraj Urs Acad Higher Educ & Res, Dept Cell Biol & Mol Genet, Genom & Cent Res Lab, Tamaka 563101, Kolar, IndiaKrishnappa, J.论文数: 0 引用数: 0 h-index: 0机构: Sri Devaraj Urs Med Coll, Dept Paediat, Tamaka 563101, Kolar, India Sri Devaraj Urs Acad Higher Educ & Res, Dept Cell Biol & Mol Genet, Genom & Cent Res Lab, Tamaka 563101, Kolar, IndiaGowda, N. Yellappa论文数: 0 引用数: 0 h-index: 0机构: Sri Devaraj Urs Med Coll, Dept Paediat, Tamaka 563101, Kolar, India Sri Devaraj Urs Acad Higher Educ & Res, Dept Cell Biol & Mol Genet, Genom & Cent Res Lab, Tamaka 563101, Kolar, IndiaKutty, A. V. M.论文数: 0 引用数: 0 h-index: 0机构: Sri Devaraj Urs Acad Higher Educ & Res, Dept Cell Biol & Mol Genet, Genom & Cent Res Lab, Tamaka 563101, Kolar, India Sri Devaraj Urs Acad Higher Educ & Res, Dept Cell Biol & Mol Genet, Genom & Cent Res Lab, Tamaka 563101, Kolar, IndiaKrishnaswamy, Patnam R.论文数: 0 引用数: 0 h-index: 0机构: Sri Devaraj Urs Acad Higher Educ & Res, Dept Cell Biol & Mol Genet, Genom & Cent Res Lab, Tamaka 563101, Kolar, India Sri Devaraj Urs Acad Higher Educ & Res, Dept Cell Biol & Mol Genet, Genom & Cent Res Lab, Tamaka 563101, Kolar, India
- [6] Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosisBRITISH JOURNAL OF DERMATOLOGY, 2014, 170 (04) : 980 - 982Fachal, L.论文数: 0 引用数: 0 h-index: 0机构: Grp Med Xen USC, Fdn Publ Galega Med Xen SERGAS, CIBERER, IDIS, Santiago De Compostela, Spain Grp Med Xen USC, Fdn Publ Galega Med Xen SERGAS, CIBERER, IDIS, Santiago De Compostela, SpainRodriguez-Pazos, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Complex Ferrol, Dermatol Serv, SERGAS, Ferrol, Spain Grp Med Xen USC, Fdn Publ Galega Med Xen SERGAS, CIBERER, IDIS, Santiago De Compostela, SpainGinarte, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Complex Santiago de Compostela, Dept Dermatol, SERGAS, Santiago De Compostela, Spain Univ Santiago de Compostela, Fac Med, Santiago De Compostela, Spain Grp Med Xen USC, Fdn Publ Galega Med Xen SERGAS, CIBERER, IDIS, Santiago De Compostela, SpainCarracedo, A.论文数: 0 引用数: 0 h-index: 0机构: Grp Med Xen USC, Fdn Publ Galega Med Xen SERGAS, CIBERER, IDIS, Santiago De Compostela, Spain Univ Santiago de Compostela, Fac Med, Santiago De Compostela, Spain Grp Med Xen USC, Fdn Publ Galega Med Xen SERGAS, CIBERER, IDIS, Santiago De Compostela, SpainToribio, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Complex Santiago de Compostela, Dept Dermatol, SERGAS, Santiago De Compostela, Spain Univ Santiago de Compostela, Fac Med, Santiago De Compostela, Spain Grp Med Xen USC, Fdn Publ Galega Med Xen SERGAS, CIBERER, IDIS, Santiago De Compostela, SpainVega, A.论文数: 0 引用数: 0 h-index: 0机构: Grp Med Xen USC, Fdn Publ Galega Med Xen SERGAS, CIBERER, IDIS, Santiago De Compostela, Spain Grp Med Xen USC, Fdn Publ Galega Med Xen SERGAS, CIBERER, IDIS, Santiago De Compostela, Spain
- [7] Nail involvement in autosomal recessive congenital ichthyosisCLINICS IN DERMATOLOGY, 2022, 40 (04) : 388 - 394Zaouak, Anissa论文数: 0 引用数: 0 h-index: 0机构: Univ Med El Tunis, Univ Tunis Manar, Habib Thameur Hosp, Dept Dermatol,Res Unit Genodermatosis & Canc LR12S, Tunis, Tunisia Univ Med El Tunis, Univ Tunis Manar, Habib Thameur Hosp, Dept Dermatol,Res Unit Genodermatosis & Canc LR12S, Tunis, TunisiaChamli, Amal论文数: 0 引用数: 0 h-index: 0机构: Univ Med El Tunis, Univ Tunis Manar, Habib Thameur Hosp, Dept Dermatol,Res Unit Genodermatosis & Canc LR12S, Tunis, Tunisia Univ Med El Tunis, Univ Tunis Manar, Habib Thameur Hosp, Dept Dermatol,Res Unit Genodermatosis & Canc LR12S, Tunis, TunisiaBen Mansour, Nadia论文数: 0 引用数: 0 h-index: 0机构: Univ Med El Tunis, Univ Tunis Manar, Cardiovasc Epidemiol & Prevent Res Lab, Tunis, Tunisia Univ Med El Tunis, Univ Tunis Manar, Habib Thameur Hosp, Dept Dermatol,Res Unit Genodermatosis & Canc LR12S, Tunis, TunisiaJouini, Wafa论文数: 0 引用数: 0 h-index: 0机构: Univ Med El Tunis, Univ Tunis Manar, Habib Thameur Hosp, Dept Dermatol,Res Unit Genodermatosis & Canc LR12S, Tunis, Tunisia Univ Med El Tunis, Univ Tunis Manar, Habib Thameur Hosp, Dept Dermatol,Res Unit Genodermatosis & Canc LR12S, Tunis, TunisiaFenniche, Samy论文数: 0 引用数: 0 h-index: 0机构: Univ Med El Tunis, Univ Tunis Manar, Habib Thameur Hosp, Dept Dermatol,Res Unit Genodermatosis & Canc LR12S, Tunis, Tunisia Univ Med El Tunis, Univ Tunis Manar, Habib Thameur Hosp, Dept Dermatol,Res Unit Genodermatosis & Canc LR12S, Tunis, TunisiaHammami, Houda论文数: 0 引用数: 0 h-index: 0机构: Univ Med El Tunis, Univ Tunis Manar, Habib Thameur Hosp, Dept Dermatol,Res Unit Genodermatosis & Canc LR12S, Tunis, Tunisia Univ Med El Tunis, Univ Tunis Manar, Habib Thameur Hosp, Dept Dermatol,Res Unit Genodermatosis & Canc LR12S, Tunis, Tunisia
- [8] Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited IchthyosisINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (05)Chulpanova, Daria S.论文数: 0 引用数: 0 h-index: 0机构: Kazan Fed Univ, Inst Fundamental Med & Biol, Kazan 420008, Russia Kazan Fed Univ, Inst Fundamental Med & Biol, Kazan 420008, RussiaShaimardanova, Alisa A.论文数: 0 引用数: 0 h-index: 0机构: Kazan Fed Univ, Inst Fundamental Med & Biol, Kazan 420008, Russia Kazan Fed Univ, Inst Fundamental Med & Biol, Kazan 420008, RussiaPonomarev, Aleksei S.论文数: 0 引用数: 0 h-index: 0机构: Kazan Fed Univ, Inst Fundamental Med & Biol, Kazan 420008, Russia Kazan Fed Univ, Inst Fundamental Med & Biol, Kazan 420008, RussiaElsheikh, Somaia论文数: 0 引用数: 0 h-index: 0机构: Kazan Fed Univ, Inst Fundamental Med & Biol, Kazan 420008, Russia Kazan Fed Univ, Inst Fundamental Med & Biol, Kazan 420008, RussiaRizvanov, Albert A.论文数: 0 引用数: 0 h-index: 0机构: Univ Nottingham, Div Canc & Stem Cell, Nottingham LE12 5RD, England Kazan Fed Univ, Inst Fundamental Med & Biol, Kazan 420008, RussiaSolovyeva, Valeriya V.论文数: 0 引用数: 0 h-index: 0机构: Kazan Fed Univ, Inst Fundamental Med & Biol, Kazan 420008, Russia Kazan Fed Univ, Inst Fundamental Med & Biol, Kazan 420008, Russia
- [9] CYP4F22 gene mutations in patients with autosomal recessive congenital ichthyosis: Identification of two novel mutationsTURK DERMATOLOJI DERGISI-TURKISH JOURNAL OF DERMATOLOGY, 2020, 14 (04): : 90 - 94论文数: 引用数: h-index:机构:Onay, Huseyin论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Fac Med, Dept Med Genet, Izmir, Turkey Marmara Univ, Pendik Training & Res Hosp, Dept Med Genet, Istanbul, TurkeyErtam, Ilgen论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Fac Med, Dept Dermatol, Izmir, Turkey Marmara Univ, Pendik Training & Res Hosp, Dept Med Genet, Istanbul, TurkeyAtaman, Esra论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Fac Med, Dept Med Genet, Izmir, Turkey Marmara Univ, Pendik Training & Res Hosp, Dept Med Genet, Istanbul, TurkeyHazan, Filiz论文数: 0 引用数: 0 h-index: 0机构: Dr Behcet Uz Childrens Hosp, Dept Med Genet, Izmir, Turkey Marmara Univ, Pendik Training & Res Hosp, Dept Med Genet, Istanbul, TurkeyDurmaz, Asude论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Fac Med, Dept Med Genet, Izmir, Turkey Marmara Univ, Pendik Training & Res Hosp, Dept Med Genet, Istanbul, TurkeyDereli, Tugrul论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Fac Med, Dept Dermatol, Izmir, Turkey Marmara Univ, Pendik Training & Res Hosp, Dept Med Genet, Istanbul, TurkeyOzkinay, Ferda论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Fac Med, Dept Med Genet, Izmir, Turkey Marmara Univ, Pendik Training & Res Hosp, Dept Med Genet, Istanbul, Turkey
- [10] Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosisTURKISH JOURNAL OF PEDIATRICS, 2017, 59 (04) : 475 - 482Dokmeci-Emre, Serap论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Med Biol, Ankara, Turkey Hacettepe Univ, Fac Med, Dept Med Biol, Ankara, TurkeyTaskiran, Zihni Ekim论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Med Genet, Ankara, Turkey Hacettepe Univ, Fac Med, Dept Med Biol, Ankara, TurkeyYuzbasioglu, Ayse论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Med Biol, Ankara, Turkey Hacettepe Univ, Fac Med, Ctr Biobanking & Genom, Ankara, Turkey Hacettepe Univ, Fac Med, Dept Med Biol, Ankara, TurkeyOnal, Gizem论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Med Biol, Ankara, Turkey Hacettepe Univ, Fac Med, Dept Med Biol, Ankara, TurkeyAkarsu, Ayse Nurten论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Med Genet, Ankara, Turkey Hacettepe Univ, Fac Med, Dept Med Biol, Ankara, TurkeyKaraduman, Aysen论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Dermatol & Venereol, Ankara, Turkey Hacettepe Univ, Fac Med, Dept Med Biol, Ankara, TurkeyOzguc, Meral论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Fac Med, Dept Med Biol, Ankara, Turkey Hacettepe Univ, Fac Med, Ctr Biobanking & Genom, Ankara, Turkey Hacettepe Univ, Fac Med, Dept Med Biol, Ankara, Turkey