共 50 条
- [21] Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous NeurodegenerationGENES, 2023, 14 (02)Narta, Kiran论文数: 0 引用数: 0 h-index: 0机构: Inst Genom & Integrat Biol, Genom & Mol Med, CSIR, Mathura Rd Near Sukhdev Vihar, New Delhi 110025, India Acad Sci & Innovat Res AcSIR, Ghaziabad 201002, India Inst Genom & Integrat Biol, Genom & Mol Med, CSIR, Mathura Rd Near Sukhdev Vihar, New Delhi 110025, IndiaTeltumbade, Manoj Ramesh论文数: 0 引用数: 0 h-index: 0机构: Inst Genom & Integrat Biol, Genom & Mol Med, CSIR, Mathura Rd Near Sukhdev Vihar, New Delhi 110025, India Acad Sci & Innovat Res AcSIR, Ghaziabad 201002, India Inst Genom & Integrat Biol, Genom & Mol Med, CSIR, Mathura Rd Near Sukhdev Vihar, New Delhi 110025, IndiaVishal, Mansi论文数: 0 引用数: 0 h-index: 0机构: Inst Genom & Integrat Biol, Genom & Mol Med, CSIR, Mathura Rd Near Sukhdev Vihar, New Delhi 110025, India Indian Inst Chem Biol, CSIR, Raja S C Mullick Rd, Kolkata 700032, India Inst Genom & Integrat Biol, Genom & Mol Med, CSIR, Mathura Rd Near Sukhdev Vihar, New Delhi 110025, IndiaSadaf, Samreen论文数: 0 引用数: 0 h-index: 0机构: Inst Genom & Integrat Biol, Genom & Mol Med, CSIR, Mathura Rd Near Sukhdev Vihar, New Delhi 110025, India Inst Genom & Integrat Biol, Genom & Mol Med, CSIR, Mathura Rd Near Sukhdev Vihar, New Delhi 110025, IndiaFaruq, Mohd.论文数: 0 引用数: 0 h-index: 0机构: Inst Genom & Integrat Biol, Genom & Mol Med, CSIR, Mathura Rd Near Sukhdev Vihar, New Delhi 110025, India Acad Sci & Innovat Res AcSIR, Ghaziabad 201002, India Inst Genom & Integrat Biol, Genom & Mol Med, CSIR, Mathura Rd Near Sukhdev Vihar, New Delhi 110025, IndiaJama, Hodan论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London EC1V 9EL, England Inst Genom & Integrat Biol, Genom & Mol Med, CSIR, Mathura Rd Near Sukhdev Vihar, New Delhi 110025, IndiaWaseem, Naushin论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London EC1V 9EL, England Inst Genom & Integrat Biol, Genom & Mol Med, CSIR, Mathura Rd Near Sukhdev Vihar, New Delhi 110025, IndiaRao, Aparna论文数: 0 引用数: 0 h-index: 0机构: LV Prasad Eye Inst, Bhubaneswar 751024, India Inst Genom & Integrat Biol, Genom & Mol Med, CSIR, Mathura Rd Near Sukhdev Vihar, New Delhi 110025, IndiaSen, Abhijit论文数: 0 引用数: 0 h-index: 0机构: Drishti Pradip, Kolkata 700068, India Inst Genom & Integrat Biol, Genom & Mol Med, CSIR, Mathura Rd Near Sukhdev Vihar, New Delhi 110025, India论文数: 引用数: h-index:机构:Mukhopadhyay, Arijit论文数: 0 引用数: 0 h-index: 0机构: Inst Genom & Integrat Biol, Genom & Mol Med, CSIR, Mathura Rd Near Sukhdev Vihar, New Delhi 110025, India Acad Sci & Innovat Res AcSIR, Ghaziabad 201002, India Univ Salford, Biomed Res & Innovat Ctr, Translat Med Unit, Salford M5 4WT, England Inst Genom & Integrat Biol, Genom & Mol Med, CSIR, Mathura Rd Near Sukhdev Vihar, New Delhi 110025, India
- [22] Whole-exome sequencing reveals novel mutations and epigenetic regulation in hypopharyngeal carcinomaONCOTARGET, 2017, 8 (49) : 85326 - 85340Wu, Ping论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaWu, Honglong论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Tianjin, Binhai Genom Inst, Tianjin 300308, Peoples R China BGI Shenzhen, BGI Tianjin, Tianjin Translat Genom Ctr, Tianjin 300308, Peoples R China Huazhong Univ Sci & Technol, Wuhan Natl Lab Optoelect, Wuhan 430074, Hubei, Peoples R China Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaTang, Yaoyun论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaLuo, Shi论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaFang, Xing论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaXie, Chubo论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaHe, Jian论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaZhao, Suping论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaWang, Xiaofeng论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Tianjin, Binhai Genom Inst, Tianjin 300308, Peoples R China BGI Shenzhen, BGI Tianjin, Tianjin Translat Genom Ctr, Tianjin 300308, Peoples R China Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaXu, Jiajia论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Tianjin, Binhai Genom Inst, Tianjin 300308, Peoples R China BGI Shenzhen, BGI Tianjin, Tianjin Translat Genom Ctr, Tianjin 300308, Peoples R China Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaChen, Xi论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Tianjin, Binhai Genom Inst, Tianjin 300308, Peoples R China BGI Shenzhen, BGI Tianjin, Tianjin Translat Genom Ctr, Tianjin 300308, Peoples R China Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaLi, Dongfang论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Tianjin, Binhai Genom Inst, Tianjin 300308, Peoples R China BGI Shenzhen, BGI Tianjin, Tianjin Translat Genom Ctr, Tianjin 300308, Peoples R China Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaYang, Huanming论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China James D Watson Inst Genome Sci, Hangzhou 310058, Zhejiang, Peoples R China Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaWang, Jian论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China James D Watson Inst Genome Sci, Hangzhou 310058, Zhejiang, Peoples R China Cent S Univ, Dept Otorhinolaryngol Head & Neck Surg, Prov Key Lab Otolaryngol Crit Dis, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China
- [23] Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short statureCLINICA CHIMICA ACTA, 2015, 446 : 9 - 14Wang, Jian论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R ChinaWang, Zhigang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R ChinaAn, Yu论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Inst Biomed Sci, Shanghai 200433, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R ChinaWu, Chunxing论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R ChinaXu, Yunlan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R ChinaFu, Qihua论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R ChinaShen, Yiping论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Med Ctr, Sch Med, Shanghai 200025, Peoples R China Boston Childrens Hosp, Boston, MA USA Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R ChinaZhang, Qinghua论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R China
- [24] Novel Mutations in Chinese Patients with Multiple Osteochondromas Identified Using Whole Exome SequencingGENETIC TESTING AND MOLECULAR BIOMARKERS, 2021, 25 (05) : 361 - 367Tong, Yu论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Affiliated Hosp 2, Wenzhou, Zhejiang, Peoples R China Wenzhou Med Univ, Yuying Childrens Hosp, Wenzhou, Zhejiang, Peoples R China Hangzhou Med Coll, Zhejiang Prov Peoples Hosp, Dept Orthoped Surg, Peoples Hosp, Hangzhou, Zhejiang, Peoples R China Wenzhou Med Univ, Affiliated Hosp 2, Wenzhou, Zhejiang, Peoples R ChinaLuo, Junchao论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Affiliated Hosp 2, Wenzhou, Zhejiang, Peoples R China Wenzhou Med Univ, Yuying Childrens Hosp, Wenzhou, Zhejiang, Peoples R China Wenzhou Med Univ, Affiliated Hosp 2, Wenzhou, Zhejiang, Peoples R ChinaZhang, Yin论文数: 0 引用数: 0 h-index: 0机构: Bengbu Med Coll, Grad Dept, Bengbu, Peoples R China Wenzhou Med Univ, Affiliated Hosp 2, Wenzhou, Zhejiang, Peoples R ChinaHong, Zheping论文数: 0 引用数: 0 h-index: 0机构: Hangzhou Med Coll, Zhejiang Prov Peoples Hosp, Dept Orthoped Surg, Peoples Hosp, Hangzhou, Zhejiang, Peoples R China Wenzhou Med Univ, Affiliated Hosp 2, Wenzhou, Zhejiang, Peoples R ChinaCao, Li论文数: 0 引用数: 0 h-index: 0机构: Hangzhou Med Coll, Zhejiang Prov Peoples Hosp, Dept Orthoped Surg, Peoples Hosp, Hangzhou, Zhejiang, Peoples R China Wenzhou Med Univ, Affiliated Hosp 2, Wenzhou, Zhejiang, Peoples R ChinaChen, Xinji论文数: 0 引用数: 0 h-index: 0机构: Hangzhou Med Coll, Zhejiang Prov Peoples Hosp, Dept Orthoped Surg, Peoples Hosp, Hangzhou, Zhejiang, Peoples R China Wenzhou Med Univ, Affiliated Hosp 2, Wenzhou, Zhejiang, Peoples R ChinaChen, Jihang论文数: 0 引用数: 0 h-index: 0机构: Hangzhou Med Coll, Zhejiang Prov Peoples Hosp, Dept Orthoped Surg, Peoples Hosp, Hangzhou, Zhejiang, Peoples R China Wenzhou Med Univ, Affiliated Hosp 2, Wenzhou, Zhejiang, Peoples R ChinaBi, Qing论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Univ, Affiliated Hosp 2, Wenzhou, Zhejiang, Peoples R China Wenzhou Med Univ, Yuying Childrens Hosp, Wenzhou, Zhejiang, Peoples R China Hangzhou Med Coll, Zhejiang Prov Peoples Hosp, Dept Orthoped Surg, Peoples Hosp, Hangzhou, Zhejiang, Peoples R China Wenzhou Med Univ, Affiliated Hosp 2, Wenzhou, Zhejiang, Peoples R China
- [25] Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsyJOURNAL OF MEDICAL GENETICS, 2019, 56 (04) : 265 - 270Zeng, Sheng论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaZhang, Mei-yun论文数: 0 引用数: 0 h-index: 0机构: Tianjin Union Med Ctr, Dept Neurol, Tianjin, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaWang, Xue-jing论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Inst Parkinson & Movement Disorder, Zhengzhou, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaHu, Zheng-mao论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Ctr Med Genet, Sch Life Sci, Changsha, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaLi, Jin-chen论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Ctr Med Genet, Sch Life Sci, Changsha, Hunan, Peoples R China Cent S Univ, Natl Clin Res Ctr Geriatr Disorders, Changsha, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaLi, Nan论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaWang, Jun-ling论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Ctr Med Genet, Sch Life Sci, Changsha, Hunan, Peoples R China Cent S Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaLiang, Fan论文数: 0 引用数: 0 h-index: 0机构: GrandOm Biosci, Beijing, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaYang, Qi论文数: 0 引用数: 0 h-index: 0机构: GrandOm Biosci, Beijing, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaLiu, Qian论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Raymond G Perelman Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USA Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA USA Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaFang, Li论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Raymond G Perelman Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USA Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA USA Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaHao, Jun-wei论文数: 0 引用数: 0 h-index: 0机构: Tianjin Med Univ, Gen Hosp, Dept Neurol, Tianjin, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaShi, Fu-dong论文数: 0 引用数: 0 h-index: 0机构: Tianjin Med Univ, Gen Hosp, Dept Neurol, Tianjin, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaDing, Xue-bing论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaTeng, Jun-fang论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Neurol, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaYin, Xiao-meng论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Zhengzhou Univ, Inst Parkinson & Movement Disorder, Zhengzhou, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaJiang, Hong论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Ctr Med Genet, Sch Life Sci, Changsha, Hunan, Peoples R China Cent S Univ, Natl Clin Res Ctr Geriatr Disorders, Changsha, Hunan, Peoples R China Cent S Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaLiao, Wei-ping论文数: 0 引用数: 0 h-index: 0机构: Guangzhou Med Univ, Inst Neurosci, Dept Neurol, Affiliated Hosp 2,Key Lab Neurogenet & Channelopa, Guangzhou, Guangdong, Peoples R China Guangzhou Med Univ, Minist Educ China, Guangzhou, Guangdong, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaLiu, Jing-yu论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Key Lab Mol Biophys, Minist Educ, Coll Life Sci & Technol, Wuhan, Hubei, Peoples R China Huazhong Univ Sci & Technol, Ctr Human Genome Res, Wuhan, Hubei, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaWang, Kai论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Raymond G Perelman Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USA Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA USA Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaXia, Kun论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Ctr Med Genet, Sch Life Sci, Changsha, Hunan, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R ChinaTang, Bei-sha论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China Cent S Univ, Ctr Med Genet, Sch Life Sci, Changsha, Hunan, Peoples R China Cent S Univ, Natl Clin Res Ctr Geriatr Disorders, Changsha, Hunan, Peoples R China Cent S Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R China Parkinsons Dis Ctr Beijing Inst Brain Disorders, Beijing, Peoples R China Collaborat Innovat Ctr Brain Sci & China, Shanghai, Peoples R China Collaborat Innovat Ctr Genet & Dev, Shanghai, Peoples R China Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China
- [26] Whole exome sequencing reveals two novel mutations in GREB1L in two chinese families with renal agenesisQJM-AN INTERNATIONAL JOURNAL OF MEDICINE, 2024, 117 (06) : 462 - 464Xie, Feifei论文数: 0 引用数: 0 h-index: 0机构: Hunan Prov Maternal & Child Hlth Care Hosp, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R China Hunan Prov Maternal & Child Hlth Care Hosp, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R ChinaZhou, Lin论文数: 0 引用数: 0 h-index: 0机构: Hunan Prov Maternal & Child Hlth Care Hosp, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R China Hunan Prov Maternal & Child Hlth Care Hosp, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R ChinaLuo, Peng论文数: 0 引用数: 0 h-index: 0机构: Yongzhou Maternal & Child Hlth Care Hosp, Yongzhou 425199, Hunan, Peoples R China Hunan Prov Maternal & Child Hlth Care Hosp, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R ChinaXi, Hui论文数: 0 引用数: 0 h-index: 0机构: Hunan Prov Maternal & Child Hlth Care Hosp, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R China Hunan Prov Maternal & Child Hlth Care Hosp, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R ChinaYu, Wenxian论文数: 0 引用数: 0 h-index: 0机构: Hunan Prov Maternal & Child Hlth Care Hosp, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R China Hunan Prov Maternal & Child Hlth Care Hosp, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R ChinaMa, Na论文数: 0 引用数: 0 h-index: 0机构: Hunan Prov Maternal & Child Hlth Care Hosp, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R China Hunan Prov Maternal & Child Hlth Care Hosp, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R ChinaWang, Dan论文数: 0 引用数: 0 h-index: 0机构: Hunan Prov Maternal & Child Hlth Care Hosp, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R China Hunan Prov Maternal & Child Hlth Care Hosp, Prenatal Diag Ctr, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R China Hunan Prov Maternal & Child Hlth Care Hosp, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R ChinaPeng, Ying论文数: 0 引用数: 0 h-index: 0机构: Hunan Prov Maternal & Child Hlth Care Hosp, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R China Hunan Prov Maternal & Child Hlth Care Hosp, Prenatal Diag Ctr, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R China Hunan Prov Maternal & Child Hlth Care Hosp, Key Lab Birth Defects Res & Prevent, Natl Hlth Commiss, Changsha 410008, Hunan, Peoples R China
- [27] A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutationsScientific Reports, 5Fuyuki Miya论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Medical Science Mathematics,Department of PediatricsMitsuhiro Kato论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Medical Science Mathematics,Department of PediatricsTadashi Shiohama论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Medical Science Mathematics,Department of PediatricsNobuhiko Okamoto论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Medical Science Mathematics,Department of PediatricsShinji Saitoh论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Medical Science Mathematics,Department of PediatricsMami Yamasaki论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Medical Science Mathematics,Department of PediatricsDaichi Shigemizu论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Medical Science Mathematics,Department of PediatricsTetsuo Abe论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Medical Science Mathematics,Department of PediatricsTakashi Morizono论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Medical Science Mathematics,Department of PediatricsKeith A. Boroevich论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Medical Science Mathematics,Department of PediatricsKenjiro Kosaki论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Medical Science Mathematics,Department of PediatricsYonehiro Kanemura论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Medical Science Mathematics,Department of PediatricsTatsuhiko Tsunoda论文数: 0 引用数: 0 h-index: 0机构: Laboratory for Medical Science Mathematics,Department of Pediatrics
- [28] Whole Exome Sequencing in Thai Patients With Retinitis Pigmentosa Reveals Novel Mutations in Six GenesINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (04) : 2259 - 2268Jinda, Worapoj论文数: 0 引用数: 0 h-index: 0机构: Mahidol Univ, Siriraj Hosp, Fac Med, Dept Biochem, Bangkok 10700, Thailand Mahidol Univ, Siriraj Hosp, Fac Med, Dept Biochem, Bangkok 10700, ThailandTaylor, Todd D.论文数: 0 引用数: 0 h-index: 0机构: RIKEN, Ctr Integrat Med Sci, Core Precise Measuring & Modeling, Lab Integrated Bioinformat,Tsurumi Ku, Yokohama, Kanagawa, Japan Mahidol Univ, Siriraj Hosp, Fac Med, Dept Biochem, Bangkok 10700, ThailandSuzuki, Yutaka论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Dept Med Genome Sci, Kashiwa, Chiba, Japan Mahidol Univ, Siriraj Hosp, Fac Med, Dept Biochem, Bangkok 10700, ThailandThongnoppakhun, Wanna论文数: 0 引用数: 0 h-index: 0机构: Mahidol Univ, Siriraj Hosp, Fac Med, Div Mol Genet,Dept Res & Dev, Bangkok 10700, Thailand Mahidol Univ, Siriraj Hosp, Fac Med, Dept Biochem, Bangkok 10700, ThailandLimwongse, Chanin论文数: 0 引用数: 0 h-index: 0机构: Mahidol Univ, Siriraj Hosp, Fac Med, Div Mol Genet,Dept Res & Dev, Bangkok 10700, Thailand Mahidol Univ, Siriraj Hosp, Fac Med, Div Med Genet,Dept Med, Bangkok 10700, Thailand Mahidol Univ, Siriraj Hosp, Fac Med, Dept Biochem, Bangkok 10700, ThailandLertrit, Patcharee论文数: 0 引用数: 0 h-index: 0机构: Mahidol Univ, Siriraj Hosp, Fac Med, Dept Biochem, Bangkok 10700, Thailand Mahidol Univ, Siriraj Hosp, Fac Med, Dept Biochem, Bangkok 10700, ThailandSuriyaphol, Prapat论文数: 0 引用数: 0 h-index: 0机构: Mahidol Univ, Siriraj Hosp, Fac Med, Bioinformat & Data Management Res Unit,Off Res &, Bangkok 10700, Thailand Mahidol Univ, Siriraj Hosp, Fac Med, Dept Biochem, Bangkok 10700, ThailandTrinavarat, Adisak论文数: 0 引用数: 0 h-index: 0机构: Mahidol Univ, Siriraj Hosp, Fac Med, Dept Ophthalmol, Bangkok 10700, Thailand Mahidol Univ, Siriraj Hosp, Fac Med, Dept Biochem, Bangkok 10700, ThailandAtchaneeyasakul, La-ongsri论文数: 0 引用数: 0 h-index: 0机构: Mahidol Univ, Siriraj Hosp, Fac Med, Dept Biochem, Bangkok 10700, Thailand Mahidol Univ, Siriraj Hosp, Fac Med, Dept Ophthalmol, Bangkok 10700, Thailand Mahidol Univ, Siriraj Hosp, Fac Med, Dept Biochem, Bangkok 10700, Thailand
- [29] Whole Exome Sequencing Reveals 19q13 Amplification and Actionable Mutations in Carcinosarcoma of the BladderLABORATORY INVESTIGATION, 2016, 96 : 266A - 266ATavassoli, Peyman论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, New York, NY USA Weill Cornell Med Coll, New York, NY USAFaltas, Bishoy S. Morris论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, New York, NY USA Weill Cornell Med Coll, New York, NY USACyrta, Joanna论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, New York, NY USA Weill Cornell Med Coll, New York, NY USAMosquera, Juan Miguel论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, New York, NY USA Weill Cornell Med Coll, New York, NY USARobinson, Brian D.论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, New York, NY USA Weill Cornell Med Coll, New York, NY USARubin, Mark论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, New York, NY USA Weill Cornell Med Coll, New York, NY USA
- [30] Whole Exome Sequencing Reveals 19q13 Amplification and Actionable Mutations in Carcinosarcoma of the BladderMODERN PATHOLOGY, 2016, 29 : 266A - 266ATavassoli, Peyman论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, New York, NY USA Weill Cornell Med Coll, New York, NY USAFaltas, Bishoy S. Morris论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, New York, NY USA Weill Cornell Med Coll, New York, NY USACyrta, Joanna论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, New York, NY USA Weill Cornell Med Coll, New York, NY USAMosquera, Juan Miguel论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, New York, NY USA Weill Cornell Med Coll, New York, NY USARobinson, Brian D.论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, New York, NY USA Weill Cornell Med Coll, New York, NY USARubin, Mark论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, New York, NY USA Weill Cornell Med Coll, New York, NY USA