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- [21] WHOLE EXOME SEQUENCING REVEALS THAT SUBUNIT MUTATIONS ARE PREVALENT IN COMPLEX I DEFICIENT LEIGH SYNDROMEJOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S13 - S13Fassone, E.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, CMGU, London, England UCL Inst Child Hlth, CMGU, London, EnglandTaanman, J. W.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England UCL Inst Child Hlth, CMGU, London, EnglandSweeney, M. G.论文数: 0 引用数: 0 h-index: 0机构: Nat Hosp Neurol, Neurogenet Unit, London, England UCL Inst Child Hlth, CMGU, London, EnglandWoodward, C.论文数: 0 引用数: 0 h-index: 0机构: Nat Hosp Neurol, Neurogenet Unit, London, England UCL Inst Child Hlth, CMGU, London, EnglandHargreaves, I. P.论文数: 0 引用数: 0 h-index: 0机构: Nat Hosp Neurol, Neurometab Unit, London, England UCL Inst Child Hlth, CMGU, London, EnglandHanna, M. G.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, London, England UCL Inst Child Hlth, CMGU, London, EnglandTaylor, R. W.论文数: 0 引用数: 0 h-index: 0机构: Mitochondrial Res Grp, Newcastle Upon Tyne, Tyne & Wear, England UCL Inst Child Hlth, CMGU, London, EnglandDuncan, A. J.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, CMGU, London, England UCL Inst Child Hlth, CMGU, London, EnglandRahman, S.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, CMGU, London, England UCL Inst Child Hlth, CMGU, London, England
- [22] 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
- [23] Whole exome sequencing reveals the landscape of gene mutations and evolution in low-grade gliomaCANCER RESEARCH, 2014, 74 (19)Suzuki, Hiromichi论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Neurosurg, Nagoya, Aichi 4648601, Japan Nagoya Univ, Dept Neurosurg, Nagoya, Aichi 4648601, JapanNatsume, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Neurosurg, Nagoya, Aichi 4648601, Japan Nagoya Univ, Dept Neurosurg, Nagoya, Aichi 4648601, JapanSato, Yusuke论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, Japan Nagoya Univ, Dept Neurosurg, Nagoya, Aichi 4648601, JapanShiraishi, Yuichi论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Inst Med Sci, Human Genome Ctr, Tokyo, Japan Nagoya Univ, Dept Neurosurg, Nagoya, Aichi 4648601, JapanShiozawa, Yusuke论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, Japan Nagoya Univ, Dept Neurosurg, Nagoya, Aichi 4648601, Japan论文数: 引用数: h-index:机构:Nagata, Yasunobu论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, Japan Nagoya Univ, Dept Neurosurg, Nagoya, Aichi 4648601, JapanSato, Aiko论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, Japan Nagoya Univ, Dept Neurosurg, Nagoya, Aichi 4648601, JapanMotomura, Kazuya论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Neurosurg, Nagoya, Aichi 4648601, Japan Nagoya Univ, Dept Neurosurg, Nagoya, Aichi 4648601, JapanFujii, Masazumi论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Neurosurg, Nagoya, Aichi 4648601, Japan Nagoya Univ, Dept Neurosurg, Nagoya, Aichi 4648601, JapanSanada, Masashi论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, Japan Nagoya Univ, Dept Neurosurg, Nagoya, Aichi 4648601, Japan论文数: 引用数: h-index:机构:Wakabayashi, Toshihiko论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Neurosurg, Nagoya, Aichi 4648601, Japan Nagoya Univ, Dept Neurosurg, Nagoya, Aichi 4648601, Japan论文数: 引用数: h-index:机构:
- [24] A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutationsSCIENTIFIC REPORTS, 2015, 5Miya, Fuyuki论文数: 0 引用数: 0 h-index: 0机构: RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, Japan RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, JapanKato, Mitsuhiro论文数: 0 引用数: 0 h-index: 0机构: Yamagata Univ, Fac Med, Dept Pediat, Yamagata 990, Japan RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, JapanShiohama, Tadashi论文数: 0 引用数: 0 h-index: 0机构: Chiba Univ, Grad Sch Med, Dept Pediat, Chiba, Japan RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, JapanOkamoto, Nobuhiko论文数: 0 引用数: 0 h-index: 0机构: Osaka Med Ctr, Dept Med Genet, Osaka, Japan Res Inst Maternal & Child Hlth, Osaka, Japan RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, JapanSaitoh, Shinji论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi, Japan RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, JapanYamasaki, Mami论文数: 0 引用数: 0 h-index: 0机构: Takatsuki Gen Hosp, Dept Pediat Neurosurg, Osaka, Japan RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, JapanShigemizu, Daichi论文数: 0 引用数: 0 h-index: 0机构: RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, Japan RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, JapanAbe, Tetsuo论文数: 0 引用数: 0 h-index: 0机构: RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, Japan RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, JapanMorizono, Takashi论文数: 0 引用数: 0 h-index: 0机构: RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, Japan RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, JapanBoroevich, Keith A.论文数: 0 引用数: 0 h-index: 0机构: RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, Japan RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, JapanKosaki, Kenjiro论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Sch Med, Ctr Med Genet, Tokyo, Japan RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, JapanKanemura, Yonehiro论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Org, Osaka Natl Hosp, Inst Clin Res, Div Regenerat Med, Osaka, Japan Natl Hosp Org, Osaka Natl Hosp, Dept Neurosurg, Osaka, Japan RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, JapanTsunoda, Tatsuhiko论文数: 0 引用数: 0 h-index: 0机构: RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, Japan RIKEN Ctr Integrat Med Sci, Lab Med Sci Math, Yokohama, Kanagawa, Japan
- [25] Whole exome sequencing reveals novel mutations in a cohort of undiagnosed patients with multiple malformation syndromesEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1533 - 1534Kritioti, E.论文数: 0 引用数: 0 h-index: 0机构: Cyprus Inst Neurol & Genet, Cytogenet & Genom Dept, Nicosia, Cyprus Cyprus Inst Neurol & Genet, Clin Genet Clin, Nicosia, Cyprus Cyprus Inst Neurol & Genet, Cyprus Sch Mol Med, Nicosia, Cyprus Cyprus Inst Neurol & Genet, Cytogenet & Genom Dept, Nicosia, CyprusNicolaou, N.论文数: 0 引用数: 0 h-index: 0机构: Cyprus Inst Neurol & Genet, Clin Genet Clin, Nicosia, Cyprus Cyprus Inst Neurol & Genet, Cytogenet & Genom Dept, Nicosia, CyprusAlexandrou, A.论文数: 0 引用数: 0 h-index: 0机构: Cyprus Inst Neurol & Genet, Cytogenet & Genom Dept, Nicosia, Cyprus Cyprus Inst Neurol & Genet, Cytogenet & Genom Dept, Nicosia, CyprusPapaevripidou, I.论文数: 0 引用数: 0 h-index: 0机构: Cyprus Inst Neurol & Genet, Cytogenet & Genom Dept, Nicosia, Cyprus Cyprus Inst Neurol & Genet, Cytogenet & Genom Dept, Nicosia, Cyprus论文数: 引用数: h-index:机构:Christophidou-Anastasiadou, V.论文数: 0 引用数: 0 h-index: 0机构: Cyprus Inst Neurol & Genet, Clin Genet Clin, Nicosia, Cyprus Archbishop Makarios III Med Ctr, Clin Genet Clin, Nicosia, Cyprus Cyprus Inst Neurol & Genet, Cytogenet & Genom Dept, Nicosia, CyprusTanteles, G. A.论文数: 0 引用数: 0 h-index: 0机构: Cyprus Inst Neurol & Genet, Clin Genet Clin, Nicosia, Cyprus Cyprus Inst Neurol & Genet, Cytogenet & Genom Dept, Nicosia, Cyprus论文数: 引用数: h-index:机构:
- [26] Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic RicketsPLOS ONE, 2015, 10 (06):Ma, Sara L.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Coll Literature Sci & Arts, Ann Arbor, MI 48109 USA Univ Michigan, Coll Literature Sci & Arts, Ann Arbor, MI 48109 USAVega-Warner, Virginia论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat & Communicable Dis, Div Nephrol, Ann Arbor, MI 48109 USA Univ Michigan, Coll Literature Sci & Arts, Ann Arbor, MI 48109 USAGillies, Christopher论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat & Communicable Dis, Div Nephrol, Ann Arbor, MI 48109 USA Univ Michigan, Coll Literature Sci & Arts, Ann Arbor, MI 48109 USASampson, Matthew G.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat & Communicable Dis, Div Nephrol, Ann Arbor, MI 48109 USA Univ Michigan, Coll Literature Sci & Arts, Ann Arbor, MI 48109 USAKher, Vijay论文数: 0 引用数: 0 h-index: 0机构: Medic Hosp, Kidney & Urol Inst, Gurgaon, India Univ Michigan, Coll Literature Sci & Arts, Ann Arbor, MI 48109 USASethi, Sidharth K.论文数: 0 引用数: 0 h-index: 0机构: Medic Hosp, Kidney & Urol Inst, Gurgaon, India Univ Michigan, Coll Literature Sci & Arts, Ann Arbor, MI 48109 USAOtto, Edgar A.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Dept Pediat & Communicable Dis, Div Nephrol, Ann Arbor, MI 48109 USA Univ Michigan, Coll Literature Sci & Arts, Ann Arbor, MI 48109 USA
- [27] Whole Exome Sequencing of Biliary Tubulopapillary Neoplasms Reveals Common Mutations in Chromatin Remodeling GenesCANCERS, 2021, 13 (11)Gross, Claudia论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, Germany Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, GermanyEngleitner, Thomas论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Mol Oncol & Funct Genom, TUM Sch Med, D-81675 Munich, Germany Tech Univ Munich, Ctr Translat Canc Res TranslaTUM, TUM Sch Med, D-81675 Munich, Germany Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, GermanyLange, Sebastian论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Mol Oncol & Funct Genom, TUM Sch Med, D-81675 Munich, Germany Tech Univ Munich, Ctr Translat Canc Res TranslaTUM, TUM Sch Med, D-81675 Munich, Germany Tech Univ Munich, TUM Sch Med, Dept Med 2, Klinikum Rechts Isar, D-81675 Munich, Germany Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, GermanyWeber, Julia论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Mol Oncol & Funct Genom, TUM Sch Med, D-81675 Munich, Germany Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, GermanyJesinghaus, Moritz论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, Germany German Canc Consortium DKTK, Partner Site Munich, D-80336 Munich, Germany Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, GermanyKonukiewitz, Bjoern论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, Germany Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, GermanyMuckenhuber, Alexander论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, Germany Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, GermanySteiger, Katja论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, Germany Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, GermanyPfarr, Nicole论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, Germany Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, GermanyGoeppert, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Inst Pathol, D-69120 Heidelberg, Germany Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, GermanyKeller, Gisela论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, Germany Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, GermanyWeichert, Wilko论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, Germany German Canc Consortium DKTK, Partner Site Munich, D-80336 Munich, Germany Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, GermanyAdsay, Nazmi Volkan论文数: 0 引用数: 0 h-index: 0机构: Koc Univ, Sch Med, Dept Pathol, TR-34010 Istanbul, Turkey Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, GermanyKloeppel, Gunter论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, Germany Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, GermanyRad, Roland论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Mol Oncol & Funct Genom, TUM Sch Med, D-81675 Munich, Germany Tech Univ Munich, Ctr Translat Canc Res TranslaTUM, TUM Sch Med, D-81675 Munich, Germany German Canc Res Ctr, German Canc Consortium DKTK, D-69120 Heidelberg, Germany Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, GermanyEsposito, Irene论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Duesseldorf, Inst Pathol, D-40225 Dusseldorf, Germany Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, GermanySchlitter, Anna Melissa论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, Germany German Canc Consortium DKTK, Partner Site Munich, D-80336 Munich, Germany Tech Univ Munich, Inst Pathol, Sch Med, D-81675 Munich, Germany
- [28] Whole exome sequencing reveals novel NOV and DCAF13 mutations in a Chinese pedigree with familial cortical myoclonic tremor with epilepsyEUROPEAN JOURNAL OF NEUROLOGY, 2016, 23 : 697 - 697Lin, H.论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Xuanwu Hosp, Neurol, Beijing, Peoples R China Capital Med Univ, Xuanwu Hosp, Neurol, Beijing, Peoples R China
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- [30] Sequencing and expression analysis of the serine protease gene cluster located in chromosome 19q13 regionGENE, 2000, 257 (01) : 119 - 130Gan, L论文数: 0 引用数: 0 h-index: 0机构: Chirosci R&D Inc, Bothell, WA 98021 USA Chirosci R&D Inc, Bothell, WA 98021 USALee, I论文数: 0 引用数: 0 h-index: 0机构: Chirosci R&D Inc, Bothell, WA 98021 USA Chirosci R&D Inc, Bothell, WA 98021 USASmith, R论文数: 0 引用数: 0 h-index: 0机构: Chirosci R&D Inc, Bothell, WA 98021 USA Chirosci R&D Inc, Bothell, WA 98021 USAArgonza-Barrett, R论文数: 0 引用数: 0 h-index: 0机构: Chirosci R&D Inc, Bothell, WA 98021 USA Chirosci R&D Inc, Bothell, WA 98021 USALei, H论文数: 0 引用数: 0 h-index: 0机构: Chirosci R&D Inc, Bothell, WA 98021 USA Chirosci R&D Inc, Bothell, WA 98021 USAMcCuaig, J论文数: 0 引用数: 0 h-index: 0机构: Chirosci R&D Inc, Bothell, WA 98021 USA Chirosci R&D Inc, Bothell, WA 98021 USAMoss, P论文数: 0 引用数: 0 h-index: 0机构: Chirosci R&D Inc, Bothell, WA 98021 USA Chirosci R&D Inc, Bothell, WA 98021 USAPaeper, B论文数: 0 引用数: 0 h-index: 0机构: Chirosci R&D Inc, Bothell, WA 98021 USA Chirosci R&D Inc, Bothell, WA 98021 USAWang, K论文数: 0 引用数: 0 h-index: 0机构: Chirosci R&D Inc, Bothell, WA 98021 USA Chirosci R&D Inc, Bothell, WA 98021 USA