共 50 条
- [41] A novel hemizygous SACS mutation identified by whole exome sequencing and SNP array analysis in a Chinese ARSACS patientJOURNAL OF THE NEUROLOGICAL SCIENCES, 2016, 362 : 111 - 114Liu, L.论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R ChinaLi, X. B.论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R ChinaZi, X. H.论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R ChinaShen, L.论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R ChinaHu, Zh. M.论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Natl Key Lab Med Genet, Changsha 410078, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R ChinaHuang, Sh. X.论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R ChinaYu, D. L.论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Dept Radiol, Changsha 410013, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R ChinaLi, H. B.论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Ophthalmol, Changsha 410008, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R ChinaXia, K.论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Natl Key Lab Med Genet, Changsha 410078, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R ChinaTang, B. S.论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Cent S Univ, Natl Key Lab Med Genet, Changsha 410078, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R ChinaZhang, R. X.论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R China Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R China
- [42] Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiencyNature Communications, 6Michal Kovac论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyClaudia Blattmann论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologySebastian Ribi论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyJan Smida论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyNikola S. Mueller论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyFlorian Engert论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyFrancesc Castro-Giner论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyJoachim Weischenfeldt论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyMonika Kovacova论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyAndreas Krieg论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyDimosthenis Andreou论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyPer-Ulf Tunn论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyHans Roland Dürr论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyHans Rechl论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyKlaus-Dieter Schaser论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyIngo Melcher论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyStefan Burdach论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyAndreas Kulozik论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyKatja Specht论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyKarl Heinimann论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologySimone Fulda论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyStefan Bielack论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyGernot Jundt论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyIan Tomlinson论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyJan O. Korbel论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyMichaela Nathrath论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric HematologyDaniel Baumhoer论文数: 0 引用数: 0 h-index: 0机构: Bone Tumour Reference Center at the Institute of Pathology,Department of Pediatric Hematology
- [43] A novel mutation identified in PKHD1 by targeted exome sequencing: Guiding prenatal diagnosis for an ARPKD familyGENE, 2014, 551 (01) : 33 - 38Xu, Yan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Prenatal Diag Ctr, Shanghai 200092, Peoples R China Shanghai Inst Pediat Res, Dept Genet, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Prenatal Diag Ctr, Shanghai 200092, Peoples R ChinaXiao, Bing论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Prenatal Diag Ctr, Shanghai 200092, Peoples R China Shanghai Inst Pediat Res, Dept Genet, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Prenatal Diag Ctr, Shanghai 200092, Peoples R ChinaJiang, Wen-Ting论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Prenatal Diag Ctr, Shanghai 200092, Peoples R China Shanghai Inst Pediat Res, Dept Genet, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Prenatal Diag Ctr, Shanghai 200092, Peoples R ChinaWang, Lei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Pediat Surg, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Prenatal Diag Ctr, Shanghai 200092, Peoples R ChinaGen, Hong-quan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Urinary Surg, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Prenatal Diag Ctr, Shanghai 200092, Peoples R ChinaChen, Ying-Wei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Prenatal Diag Ctr, Shanghai 200092, Peoples R China Shanghai Inst Pediat Res, Dept Genet, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Prenatal Diag Ctr, Shanghai 200092, Peoples R ChinaSun, Yu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Prenatal Diag Ctr, Shanghai 200092, Peoples R China Shanghai Inst Pediat Res, Dept Genet, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Prenatal Diag Ctr, Shanghai 200092, Peoples R ChinaJi, Xing论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Prenatal Diag Ctr, Shanghai 200092, Peoples R China Shanghai Inst Pediat Res, Dept Genet, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Dept Prenatal Diag Ctr, Shanghai 200092, Peoples R China
- [44] CCDC111 mutation was identified in high myopia through exome sequencingINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2013, 54 (15)Zhao, Fuxin论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Coll, Sch Ophthal & Optometry, Wenzhou, Peoples R China Wenzhou Med Coll, Sch Ophthal & Optometry, Wenzhou, Peoples R ChinaZhou, Xiangtian论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Coll, Sch Ophthal & Optometry, Wenzhou, Peoples R China Wenzhou Med Coll, Sch Ophthal & Optometry, Wenzhou, Peoples R ChinaXue, Anquan论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Coll, Sch Ophthal & Optometry, Wenzhou, Peoples R China Wenzhou Med Coll, Sch Ophthal & Optometry, Wenzhou, Peoples R ChinaSu, Yanfeng论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Coll, Sch Ophthal & Optometry, Wenzhou, Peoples R China Wenzhou Med Coll, Sch Ophthal & Optometry, Wenzhou, Peoples R ChinaQu, Jia论文数: 0 引用数: 0 h-index: 0机构: Wenzhou Med Coll, Sch Ophthal & Optometry, Wenzhou, Peoples R China Wenzhou Med Coll, Sch Ophthal & Optometry, Wenzhou, Peoples R China
- [45] Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiencyNATURE COMMUNICATIONS, 2015, 6Kovac, Michal论文数: 0 引用数: 0 h-index: 0机构: Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, Switzerland Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandBlattmann, Claudia论文数: 0 引用数: 0 h-index: 0机构: Klinikum Stuttgart Olgahosp, Pediat 5, Oncol Hematol Immunol, D-70174 Stuttgart, Germany Heidelberg Univ, Dept Pediat Hematol Oncol Immunol & Pulmol, D-69120 Heidelberg, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, Switzerland论文数: 引用数: h-index:机构:Smida, Jan论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Clin Cooperat Grp Osteosarcoma, Inst Radiat Biol, D-85764 Neuherberg, Germany Tech Univ Munich, Dept Pediat, Pediat Oncol Ctr, D-80804 Munich, Germany Ctr Comprehens Canc, D-80804 Munich, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandMueller, Nikola S.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Computat Biol, D-85764 Neuherberg, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandEngert, Florian论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ Frankfurt, Canc Res Pediat, Inst Expt Canc, D-60528 Frankfurt, Germany German Canc Consortium DKTK, D-69120 Heidelberg, Germany German Canc Res Ctr, D-69120 Heidelberg, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandCastro-Giner, Francesc论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandWeischenfeldt, Joachim论文数: 0 引用数: 0 h-index: 0机构: European Mol Biol Lab, Genome Biol Unit, D-69117 Heidelberg, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandKovacova, Monika论文数: 0 引用数: 0 h-index: 0机构: Slovak Univ Technol Bratislava, Fac Mech Engn, Inst Math & Phys, Bratislava 84248, Slovakia Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandKrieg, Andreas论文数: 0 引用数: 0 h-index: 0机构: Basel Univ Childrens Hosp UKBB, Dept Orthopaed, CH-4056 Basel, Switzerland Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandAndreou, Dimosthenis论文数: 0 引用数: 0 h-index: 0机构: HELIOS Klinikum Berlin Buch, Sarcoma Ctr Berlin Brandenburg, Dept Orthoped Oncol, D-13125 Berlin, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandTunn, Per-Ulf论文数: 0 引用数: 0 h-index: 0机构: HELIOS Klinikum Berlin Buch, Sarcoma Ctr Berlin Brandenburg, Dept Orthoped Oncol, D-13125 Berlin, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandDuerr, Hans Roland论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Dept Orthoped Surg, D-81377 Munich, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandRechl, Hans论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Clin & Policlin Orthoped & Sports Orthoped, D-81675 Munich, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandSchaser, Klaus-Dieter论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Dresden, Dept Orthopaed & Trauma Surg, D-01307 Dresden, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandMelcher, Ingo论文数: 0 引用数: 0 h-index: 0机构: Charite, Ctr Musculoskeletal Surg, D-13353 Berlin, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandBurdach, Stefan论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Dept Pediat, Pediat Oncol Ctr, D-80804 Munich, Germany Ctr Comprehens Canc, D-80804 Munich, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandKulozik, Andreas论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Dept Pediat Hematol Oncol Immunol & Pulmol, D-69120 Heidelberg, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandSpecht, Katja论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Pathol, D-81675 Munich, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandHeinimann, Karl论文数: 0 引用数: 0 h-index: 0机构: Univ Basel Hosp, Med Genet, CH-4055 Basel, Switzerland Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandFulda, Simone论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ Frankfurt, Canc Res Pediat, Inst Expt Canc, D-60528 Frankfurt, Germany German Canc Consortium DKTK, D-69120 Heidelberg, Germany German Canc Res Ctr, D-69120 Heidelberg, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandBielack, Stefan论文数: 0 引用数: 0 h-index: 0机构: Klinikum Stuttgart Olgahosp, Pediat 5, Oncol Hematol Immunol, D-70174 Stuttgart, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandJundt, Gernot论文数: 0 引用数: 0 h-index: 0机构: Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, Switzerland Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandTomlinson, Ian论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandKorbel, Jan O.论文数: 0 引用数: 0 h-index: 0机构: European Mol Biol Lab, Genome Biol Unit, D-69117 Heidelberg, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandNathrath, Michaela论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Clin Cooperat Grp Osteosarcoma, Inst Radiat Biol, D-85764 Neuherberg, Germany Tech Univ Munich, Dept Pediat, Pediat Oncol Ctr, D-80804 Munich, Germany Ctr Comprehens Canc, D-80804 Munich, Germany Klinikum Kassel, Dept Pediat Oncol, D-34125 Kassel, Germany Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, SwitzerlandBaumhoer, Daniel论文数: 0 引用数: 0 h-index: 0机构: Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, Switzerland Univ Basel Hosp, Bone Tumour Reference Ctr, Inst Pathol, CH-4031 Basel, Switzerland
- [46] WHOLE EXOME SEQUENCING OF PATIENTS WITH TUBEROUS SCLEROSIS WITHOUT A PREVIOUSLY IDENTIFIED MUTATIONEPILEPSIA, 2014, 55 : 218 - 218Lund, C.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Natl Ctr Rare Epilepsy Related Disorders, Sandvika, Norway Oslo Univ Hosp, Natl Ctr Rare Epilepsy Related Disorders, Sandvika, NorwayHeimdal, K. R.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Oslo, Oslo, Norway Oslo Univ Hosp, Natl Ctr Rare Epilepsy Related Disorders, Sandvika, NorwayWangensteen, T.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Oslo, Oslo, Norway Oslo Univ Hosp, Natl Ctr Rare Epilepsy Related Disorders, Sandvika, NorwaySheng, Y.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Oslo, Oslo, Norway Oslo Univ Hosp, Natl Ctr Rare Epilepsy Related Disorders, Sandvika, NorwayOye, A-M论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Oslo, Oslo, Norway Oslo Univ Hosp, Natl Ctr Rare Epilepsy Related Disorders, Sandvika, NorwayRodningen, O.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Oslo, Oslo, Norway Oslo Univ Hosp, Natl Ctr Rare Epilepsy Related Disorders, Sandvika, NorwayKulseth, M. A.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Oslo, Oslo, Norway Oslo Univ Hosp, Natl Ctr Rare Epilepsy Related Disorders, Sandvika, Norway论文数: 引用数: h-index:机构:
- [47] C5 Complement Deficiency in a Saudi Family, Molecular Characterization of Mutation and Literature ReviewJOURNAL OF CLINICAL IMMUNOLOGY, 2013, 33 (04) : 871 - 875Arnaout, Rand论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia Al Faisal Univ, Sch Med, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi ArabiaAl Shorbaghi, Sahar论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi ArabiaAl Dhekri, Hasan论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia Al Faisal Univ, Sch Med, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi ArabiaAl-Mousa, Hamoud论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia Al Faisal Univ, Sch Med, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi ArabiaAl Ghonaium, Abdulaziz论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi ArabiaAl Saud, Bandar论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia Al Faisal Univ, Sch Med, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi ArabiaAl Muhsen, Saleh论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia King Saud Univ, Riyadh, Saudi Arabia King Khalid Univ Hosp, Riyadh 11472, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi ArabiaAl Baik, Lina论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi ArabiaHawwari, Abbas论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Res Ctr, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia
- [48] C5 Complement Deficiency in a Saudi Family, Molecular Characterization of Mutation and Literature ReviewJournal of Clinical Immunology, 2013, 33 : 871 - 875Rand Arnaout论文数: 0 引用数: 0 h-index: 0机构: King Faisal specialist Hospital & Research Center,School of MedicineSahar Al Shorbaghi论文数: 0 引用数: 0 h-index: 0机构: King Faisal specialist Hospital & Research Center,School of MedicineHasan Al Dhekri论文数: 0 引用数: 0 h-index: 0机构: King Faisal specialist Hospital & Research Center,School of MedicineHamoud Al-Mousa论文数: 0 引用数: 0 h-index: 0机构: King Faisal specialist Hospital & Research Center,School of MedicineAbdulaziz Al Ghonaium论文数: 0 引用数: 0 h-index: 0机构: King Faisal specialist Hospital & Research Center,School of MedicineBandar Al Saud论文数: 0 引用数: 0 h-index: 0机构: King Faisal specialist Hospital & Research Center,School of MedicineSaleh Al Muhsen论文数: 0 引用数: 0 h-index: 0机构: King Faisal specialist Hospital & Research Center,School of MedicineLina Al Baik论文数: 0 引用数: 0 h-index: 0机构: King Faisal specialist Hospital & Research Center,School of MedicineAbbas Hawwari论文数: 0 引用数: 0 h-index: 0机构: King Faisal specialist Hospital & Research Center,School of Medicine
- [49] PRKG1 mutation identified by whole-exome sequencing: a potential genetic etiology for He-Zhao deficiency生物组学研究杂志(英文), 2022, 05 (03) : 118 - 124Hu Xiaowen论文数: 0 引用数: 0 h-index: 0机构: Bio-X Institutes Bio-X InstitutesWang Dandan论文数: 0 引用数: 0 h-index: 0机构: Bio-X Institutes Bio-X InstitutesYang Xuhan论文数: 0 引用数: 0 h-index: 0机构: Bio-X Institutes Bio-X InstitutesSong Zhongchen论文数: 0 引用数: 0 h-index: 0机构: Ninth People’s Hospital 6. Shanghai Jiao Tong University School of Medicine Bio-X InstitutesWang Zuolin论文数: 0 引用数: 0 h-index: 0机构: Bio-X InstitutesZhang Juan论文数: 0 引用数: 0 h-index: 0机构: Bio-X Institutes Bio-X InstitutesWan Chunling论文数: 0 引用数: 0 h-index: 0机构: Bio-X Institutes Bio-X InstitutesHe Lin论文数: 0 引用数: 0 h-index: 0机构: Bio-X Institutes Bio-X Institutes
- [50] Exome Sequencing Identification of a Novel Causal Mutation for Eyelid DysplasiaINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2013, 54 (15)St Germain, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Ctr Human Genet, Durham, NC USA Duke Univ, Ctr Human Genet, Durham, NC USAKhanh-Nhat Tran-Viet论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Ctr Human Genet, Durham, NC USA Duke Univ, Ctr Human Genet, Durham, NC USAKlemm, Thomas论文数: 0 引用数: 0 h-index: 0机构: Duke Natl Univ Singapore, Grad Sch Med, Singapore, Singapore Duke Univ, Ctr Human Genet, Durham, NC USALimviphuvadh, Vachiranee论文数: 0 引用数: 0 h-index: 0机构: Agcy Sci Technol & Res, Bioinformat Inst, Singapore, Singapore Duke Univ, Ctr Human Genet, Durham, NC USAMaurer-Stroh, Sebastian论文数: 0 引用数: 0 h-index: 0机构: Agcy Sci Technol & Res, Bioinformat Inst, Singapore, Singapore Nanyang Technol Univ, Sch Biol Sci, Singapore, Singapore Duke Univ, Ctr Human Genet, Durham, NC USA论文数: 引用数: h-index:机构:Shayesteh, Yasmin论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Scheie Eye Inst, Div Pediat Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Raymond & Ruth Perelman Sch Med, Philadelphia, PA 19104 USA Duke Univ, Ctr Human Genet, Durham, NC USAKatowitz, James论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Scheie Eye Inst, Div Pediat Ophthalmol, Philadelphia, PA 19104 USA Univ Penn, Raymond & Ruth Perelman Sch Med, Philadelphia, PA 19104 USA Duke Univ, Ctr Human Genet, Durham, NC USARozen, Steve论文数: 0 引用数: 0 h-index: 0机构: Duke Natl Univ Singapore, Grad Sch Med, Singapore, Singapore Duke Univ, Ctr Human Genet, Durham, NC USAYoung, Terri论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Ctr Human Genet, Durham, NC USA Duke Natl Univ Singapore, Grad Sch Med, Singapore, Singapore Duke Univ, Ctr Human Genet, Durham, NC USA