共 50 条
- [1] GENOTYPE-PHENOTYPE CORRELATION IN PATIENTS WITH COMORBID EPILEPSY AND INTELLECTUAL DISABILITYEPILEPSIA, 2011, 52 : 90 - 90Klitten, L. L.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dianalund, Denmark Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Copenhagen, Denmark Danish Epilepsy Ctr, Dianalund, DenmarkGronborg, S.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dianalund, Denmark Danish Epilepsy Ctr, Dianalund, DenmarkMoller, R. S.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dianalund, Denmark Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Copenhagen, Denmark Danish Epilepsy Ctr, Dianalund, DenmarkThomsen, A. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Copenhagen, Denmark Danish Epilepsy Ctr, Dianalund, DenmarkNikanorova, M.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dianalund, Denmark Danish Epilepsy Ctr, Dianalund, DenmarkHjalgrim, H.论文数: 0 引用数: 0 h-index: 0机构: Danish Epilepsy Ctr, Dianalund, Denmark Danish Epilepsy Ctr, Dianalund, Denmark论文数: 引用数: h-index:机构:
- [2] Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencingPEDIATRIC RESEARCH, 2020, 87 (04) : 735 - 739Ziats, Mark N.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Internal Med, Ann Arbor, MI USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USAAhmad, Ayesha论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat, Div Pediat Genet Metab & Genom Med, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USABernat, John A.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Stead Family Dept Pediat, Div Med Genet, Iowa City, IA USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USAFisher, Rachel论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat, Div Pediat Genet Metab & Genom Med, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USAGlassford, Megan论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat, Div Pediat Genet Metab & Genom Med, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USAHannibal, Mark C.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat, Div Pediat Genet Metab & Genom Med, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USAJacher, Joseph E.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat, Div Pediat Genet Metab & Genom Med, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USAWeiser, Natasha论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat, Div Pediat Genet Metab & Genom Med, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USAKeegan, Catherine E.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat, Div Pediat Genet Metab & Genom Med, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Childrens Clin Trial Support Unit, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USALee, Kristen N.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat, Div Pediat Genet Metab & Genom Med, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USAMarzulla, Tessa B.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Childrens Clin Trial Support Unit, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USAO'Connor, Bridget C.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat, Div Pediat Genet Metab & Genom Med, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USAQuinonez, Shane C.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Internal Med, Ann Arbor, MI USA Univ Michigan, Dept Pediat, Div Pediat Genet Metab & Genom Med, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USASeemann, Lauren论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Childrens Clin Trial Support Unit, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USATurner, Lauren论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Childrens Clin Trial Support Unit, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USA论文数: 引用数: h-index:机构:Harris, Nicholas L.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Childrens Clin Trial Support Unit, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USAOgle, Jacob D.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat, Div Pediat Genet Metab & Genom Med, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Childrens Clin Trial Support Unit, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USAInnis, Jeffrey W.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Internal Med, Ann Arbor, MI USA Univ Michigan, Dept Pediat, Div Pediat Genet Metab & Genom Med, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Childrens Clin Trial Support Unit, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USAMartin, Donna M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat, Div Pediat Genet Metab & Genom Med, Ann Arbor, MI 48109 USA Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Childrens Clin Trial Support Unit, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI USA
- [3] Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlationEPILEPSY & BEHAVIOR, 2022, 128Horak, Ondrej论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech Republic Univ Hosp Brno, Brno Epilepsy Ctr, Cernopolni 9, Brno 61300, Czech Republic Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech RepublicBuresova, Martina论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Ctr Mol Biol & Genet, Internal Haematol & Oncol Clin, Brno, Czech Republic Univ Hosp Brno, Brno, Czech Republic Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech RepublicKolar, Senad论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech Republic Univ Hosp Brno, Brno Epilepsy Ctr, Cernopolni 9, Brno 61300, Czech Republic Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech RepublicSpanelova, Klara论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech Republic Univ Hosp Brno, Brno Epilepsy Ctr, Cernopolni 9, Brno 61300, Czech Republic Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech RepublicJerabkova, Barbora论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Ctr Mol Biol & Genet, Internal Haematol & Oncol Clin, Brno, Czech Republic Univ Hosp Brno, Brno, Czech Republic Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech RepublicGaillyova, Renata论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Brno, Brno, Czech Republic Masaryk Univ, Fac Med, Inst Med Genet & Genom, Brno, Czech Republic Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech RepublicCeska, Katarina论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech Republic Univ Hosp Brno, Brno Epilepsy Ctr, Cernopolni 9, Brno 61300, Czech Republic Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech RepublicReblova, Kamila论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Ctr Mol Biol & Genet, Internal Haematol & Oncol Clin, Brno, Czech Republic Univ Hosp Brno, Brno, Czech Republic Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech RepublicSoukalova, Jana论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Brno, Brno, Czech Republic Masaryk Univ, Fac Med, Inst Med Genet & Genom, Brno, Czech Republic Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech RepublicZidkova, Jana论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Ctr Mol Biol & Genet, Internal Haematol & Oncol Clin, Brno, Czech Republic Univ Hosp Brno, Brno, Czech Republic Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech RepublicFajkusova, Lenka论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Ctr Mol Biol & Genet, Internal Haematol & Oncol Clin, Brno, Czech Republic Univ Hosp Brno, Brno, Czech Republic Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech RepublicOslejskova, Hana论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech Republic Univ Hosp Brno, Brno Epilepsy Ctr, Cernopolni 9, Brno 61300, Czech Republic Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech RepublicRektor, Ivan论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Cent European Inst Technol CEITEC, Brno, Czech Republic Masaryk Univ, St Annes Univ Hosp, Dept Neurol 1, Brno Epilepsy Ctr, Brno, Czech Republic Masaryk Univ, Med Fac, Brno, Czech Republic Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech RepublicDanhofer, Pavlina论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech Republic Univ Hosp Brno, Brno Epilepsy Ctr, Cernopolni 9, Brno 61300, Czech Republic Masaryk Univ, Fac Med, Dept Pediat Neurol, Cernopolni 9, Brno 61300, Czech Republic
- [4] Analysis of Genotype-Phenotype Correlations in Patients With Degenerative Dementia Through the Whole Exome SequencingFRONTIERS IN AGING NEUROSCIENCE, 2021, 13Sun, Lin论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R ChinaZhang, Jianye论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R ChinaSu, Ning论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R ChinaZhang, Shaowei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R ChinaYan, Feng论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R ChinaLin, Xiang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R ChinaYu, Jie论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R ChinaLi, Wei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R ChinaLi, Xia论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R ChinaXiao, Shifu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Dept Geriatr Psychiat, Alzheimers Dis & Related Disorders Ctr, Shanghai Mental Hlth Ctr,Sch Med, Shanghai, Peoples R China
- [5] Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsiaJournal of Translational Medicine, 13Fen-Fen Li论文数: 0 引用数: 0 h-index: 0机构: Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision ScienceXiu-Feng Huang论文数: 0 引用数: 0 h-index: 0机构: Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision ScienceJie Chen论文数: 0 引用数: 0 h-index: 0机构: Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision ScienceXu-Dong Yu论文数: 0 引用数: 0 h-index: 0机构: Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision ScienceMei-Qin Zheng论文数: 0 引用数: 0 h-index: 0机构: Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision ScienceFan Lu论文数: 0 引用数: 0 h-index: 0机构: Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision ScienceZi-Bing Jin论文数: 0 引用数: 0 h-index: 0机构: Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision ScienceDe-Kang Gan论文数: 0 引用数: 0 h-index: 0机构: Ministry of Health,The Eye Hospital of Wenzhou Medical University, The State Key Laboratory Cultivation Base and Key Laboratory of Vision Science
- [6] Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsiaJOURNAL OF TRANSLATIONAL MEDICINE, 2015, 13 : 1Li, Fen-Fen论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, State Key Lab Cultivat Base, Hosp Eye, Wenzhou 325027, Peoples R China Minist Hlth, Key Lab Vis Sci, Wenzhou 325027, Peoples R China Wenzhou Med Univ, State Key Lab Cultivat Base, Hosp Eye, Wenzhou 325027, Peoples R ChinaHuang, Xiu-Feng论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, State Key Lab Cultivat Base, Hosp Eye, Wenzhou 325027, Peoples R China Minist Hlth, Key Lab Vis Sci, Wenzhou 325027, Peoples R China Wenzhou Med Univ, State Key Lab Cultivat Base, Hosp Eye, Wenzhou 325027, Peoples R ChinaChen, Jie论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, State Key Lab Cultivat Base, Hosp Eye, Wenzhou 325027, Peoples R China Minist Hlth, Key Lab Vis Sci, Wenzhou 325027, Peoples R China Wenzhou Med Univ, State Key Lab Cultivat Base, Hosp Eye, Wenzhou 325027, Peoples R ChinaYu, Xu-Dong论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, State Key Lab Cultivat Base, Hosp Eye, Wenzhou 325027, Peoples R China Minist Hlth, Key Lab Vis Sci, Wenzhou 325027, Peoples R China Wenzhou Med Univ, State Key Lab Cultivat Base, Hosp Eye, Wenzhou 325027, Peoples R ChinaZheng, Mei-Qin论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, State Key Lab Cultivat Base, Hosp Eye, Wenzhou 325027, Peoples R China Minist Hlth, Key Lab Vis Sci, Wenzhou 325027, Peoples R China Wenzhou Med Univ, State Key Lab Cultivat Base, Hosp Eye, Wenzhou 325027, Peoples R ChinaLu, Fan论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, State Key Lab Cultivat Base, Hosp Eye, Wenzhou 325027, Peoples R China Minist Hlth, Key Lab Vis Sci, Wenzhou 325027, Peoples R China Wenzhou Med Univ, State Key Lab Cultivat Base, Hosp Eye, Wenzhou 325027, Peoples R ChinaJin, Zi-Bing论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, State Key Lab Cultivat Base, Hosp Eye, Wenzhou 325027, Peoples R China Minist Hlth, Key Lab Vis Sci, Wenzhou 325027, Peoples R China Wenzhou Med Univ, State Key Lab Cultivat Base, Hosp Eye, Wenzhou 325027, Peoples R ChinaGan, De-Kang论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Eye & ENT Hosp, Dept Ophthalmol, Shanghai 200031, Peoples R China Wenzhou Med Univ, State Key Lab Cultivat Base, Hosp Eye, Wenzhou 325027, Peoples R China
- [7] Systemic Genotype-Phenotype Analysis of MYOC Variants Based on Exome Sequencing and Literature ReviewASIA-PACIFIC JOURNAL OF OPHTHALMOLOGY, 2021, 10 (02): : 173 - 182Li, Xueqing论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, 54 Xianlie Rd, Guangzhou, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, 54 Xianlie Rd, Guangzhou, Peoples R ChinaXiao, Xueshan论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, 54 Xianlie Rd, Guangzhou, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, 54 Xianlie Rd, Guangzhou, Peoples R ChinaLi, Shiqiang论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, 54 Xianlie Rd, Guangzhou, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, 54 Xianlie Rd, Guangzhou, Peoples R ChinaSun, Wenmin论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, 54 Xianlie Rd, Guangzhou, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, 54 Xianlie Rd, Guangzhou, Peoples R ChinaWang, Panfeng论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, 54 Xianlie Rd, Guangzhou, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, 54 Xianlie Rd, Guangzhou, Peoples R ChinaZhang, Qingjiong论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, 54 Xianlie Rd, Guangzhou, Peoples R China Sun Yat Sen Univ, Zhongshan Ophthalm Ctr, State Key Lab Ophthalmol, 54 Xianlie Rd, Guangzhou, Peoples R China
- [8] Whole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype CorrelationDERMATOLOGY, 2022, 238 (05) : 860 - 869Marzano, Angelo Valerio论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dermatol Unit, Milan, Italy Univ Milan, Dept Pathophysiol & Transplantat, Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dermatol Unit, Milan, ItalyGenovese, Giovanni论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dermatol Unit, Milan, Italy Univ Milan, Dept Pathophysiol & Transplantat, Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dermatol Unit, Milan, Italy论文数: 引用数: h-index:机构:Tricarico, Paola Maura论文数: 0 引用数: 0 h-index: 0机构: IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dermatol Unit, Milan, ItalyGratton, Rossella论文数: 0 引用数: 0 h-index: 0机构: IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dermatol Unit, Milan, ItalyPiaserico, Stefano论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Med, Dermatol Unit, Padua, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dermatol Unit, Milan, ItalyGarcovich, Simone论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Policlin Agostino Gemelli, Inst Dermatol, Rome, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dermatol Unit, Milan, ItalyBoniotto, Michele论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Est Creteil, INSERM, IMRB Equipe Leboyer, Creteil, France Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dermatol Unit, Milan, ItalyBrandao, Lucas论文数: 0 引用数: 0 h-index: 0机构: IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dermatol Unit, Milan, ItalyMoura, Ronald论文数: 0 引用数: 0 h-index: 0机构: IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dermatol Unit, Milan, ItalyCrovella, Sergio论文数: 0 引用数: 0 h-index: 0机构: Univ Qatar, Coll Arts & Sci, Dept Biol & Environm Sci, Doha, Qatar Fdn IRCCS Ca Granda Osped Maggiore Policlin, Dermatol Unit, Milan, Italy
- [9] GENOTYPE-PHENOTYPE CORRELATION IN FMF PATIENTSPEDIATRIC NEPHROLOGY, 2018, 33 (10) : 1946 - 1946Gurpinar, Gozde论文数: 0 引用数: 0 h-index: 0机构: Sisli Hamidiye Etfal Educ & Res Hosp, Istanbul, Turkey Sisli Hamidiye Etfal Educ & Res Hosp, Istanbul, TurkeyAkinci, Nurver论文数: 0 引用数: 0 h-index: 0机构: Sisli Hamidiye Etfal Educ & Res Hosp, Istanbul, Turkey Sisli Hamidiye Etfal Educ & Res Hosp, Istanbul, TurkeyOzcelik, Gul论文数: 0 引用数: 0 h-index: 0机构: Sisli Hamidiye Etfal Educ & Res Hosp, Istanbul, Turkey Sisli Hamidiye Etfal Educ & Res Hosp, Istanbul, TurkeyYildirmak, Yildiz论文数: 0 引用数: 0 h-index: 0机构: Sisli Hamidiye Etfal Educ & Res Hosp, Istanbul, Turkey Sisli Hamidiye Etfal Educ & Res Hosp, Istanbul, Turkey
- [10] GENOTYPE-PHENOTYPE CORRELATION IN CHOROIDEREMIA PATIENTSINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1992, 33 (04) : 1095 - 1095RUETHER, K论文数: 0 引用数: 0 h-index: 0机构: UNIV TUBINGEN,AUGEN KLIN,ABT 2,W-7400 TUBINGEN 1,GERMANYVANDERHURK, JAJM论文数: 0 引用数: 0 h-index: 0机构: UNIV TUBINGEN,AUGEN KLIN,ABT 2,W-7400 TUBINGEN 1,GERMANYCREMERS, FPM论文数: 0 引用数: 0 h-index: 0机构: UNIV TUBINGEN,AUGEN KLIN,ABT 2,W-7400 TUBINGEN 1,GERMANYROPERS, HH论文数: 0 引用数: 0 h-index: 0机构: UNIV TUBINGEN,AUGEN KLIN,ABT 2,W-7400 TUBINGEN 1,GERMANYZRENNER, E论文数: 0 引用数: 0 h-index: 0机构: UNIV TUBINGEN,AUGEN KLIN,ABT 2,W-7400 TUBINGEN 1,GERMANY