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- [1] A Gain-of-Function Mutation in EPO in Familial Erythrocytosis[J]. NEW ENGLAND JOURNAL OF MEDICINE, 2018, 378 (10): : 924 - 930Zmajkovic, Jakub论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Basel, Dept Biomed Expt Hematol, Basel, Switzerland Univ Basel, Basel, Switzerland Univ Hosp Basel, Dept Biomed Expt Hematol, Basel, SwitzerlandLundberg, Pontus论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Basel, Dept Biomed Expt Hematol, Basel, Switzerland Univ Basel, Basel, Switzerland Univ Hosp Basel, Diagnost Hematol, Basel, Switzerland Univ Hosp Basel, Dept Biomed Expt Hematol, Basel, Switzerland论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Sundan, Anders论文数: 0 引用数: 0 h-index: 0机构: Norwegian Univ Sci & Technol, Dept Clin & Mol Med, Trondheim, Norway Univ Hosp Basel, Dept Biomed Expt Hematol, Basel, Switzerland论文数: 引用数: h-index:机构:Skoda, Radek C.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Basel, Dept Biomed Expt Hematol, Basel, Switzerland Univ Basel, Basel, Switzerland Univ Hosp Basel, Dept Biomed Expt Hematol, Basel, Switzerland
- [2] A gain-of-function mutation in EPO in familial erythrocytosis[J]. SWISS MEDICAL WEEKLY, 2018, 148 : 25S - 26SZmajkovic, Jakub论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Basel, Expt Hematol, Dept Biomed, Basel, Switzerland Univ Basel, Basel, Switzerland Univ Hosp Basel, Expt Hematol, Dept Biomed, Basel, SwitzerlandLundberg, Pontus论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Basel, Expt Hematol, Dept Biomed, Basel, Switzerland Univ Basel, Basel, Switzerland Univ Hosp Basel, Diagnost Hematol, Basel, Switzerland Univ Hosp Basel, Expt Hematol, Dept Biomed, Basel, Switzerland论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Sundan, Anders论文数: 0 引用数: 0 h-index: 0机构: Norwegian Univ Sci & Technol, Dept Canc Res & Mol Med, NTNU, Trondheim, Norway Univ Hosp Basel, Expt Hematol, Dept Biomed, Basel, Switzerland论文数: 引用数: h-index:机构:Skoda, Radek C.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Basel, Expt Hematol, Dept Biomed, Basel, Switzerland Univ Basel, Basel, Switzerland Univ Hosp Basel, Expt Hematol, Dept Biomed, Basel, Switzerland
- [3] A gain-of-function mutation in the HIF2A gene in familial erythrocytosis[J]. NEW ENGLAND JOURNAL OF MEDICINE, 2008, 358 (02): : 162 - 168Percy, Melanie J.论文数: 0 引用数: 0 h-index: 0机构: Belfast City Hosp, Dept Haematol, Belfast BT9 7AB, Antrim, North Ireland Belfast City Hosp, Dept Haematol, Belfast BT9 7AB, Antrim, North IrelandFurlow, Paul W.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Med, Dept Pathol & Lab Med, Stellar Chance Labs 605, Philadelphia, PA 19104 USA Belfast City Hosp, Dept Haematol, Belfast BT9 7AB, Antrim, North IrelandLucas, Guy S.论文数: 0 引用数: 0 h-index: 0机构: Manchester Royal Infirm, Manchester M13 9WL, Lancs, England Belfast City Hosp, Dept Haematol, Belfast BT9 7AB, Antrim, North IrelandLi, Xiping论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Med, Dept Pathol & Lab Med, Stellar Chance Labs 605, Philadelphia, PA 19104 USA Belfast City Hosp, Dept Haematol, Belfast BT9 7AB, Antrim, North IrelandLappin, Terence R. J.论文数: 0 引用数: 0 h-index: 0机构: Queens Univ Belfast, Ctr Canc Res & Cell Biol, Belfast, Antrim, North Ireland Belfast City Hosp, Dept Haematol, Belfast BT9 7AB, Antrim, North Ireland论文数: 引用数: h-index:机构:Lee, Frank S.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Sch Med, Dept Pathol & Lab Med, Stellar Chance Labs 605, Philadelphia, PA 19104 USA Belfast City Hosp, Dept Haematol, Belfast BT9 7AB, Antrim, North Ireland
- [4] A Gain-of-Function Mutation in TRPA1 Causes Familial Episodic Pain Syndrome[J]. NEURON, 2010, 66 (05) : 671 - 680Kremeyer, Barbara论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Genet Evolut & Environm, London WC1E 6BT, England UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandLopera, Francisco论文数: 0 引用数: 0 h-index: 0机构: Univ Antioquia, Fac Med, Grp Neurociencias, Medellin, Colombia UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandCox, James J.论文数: 0 引用数: 0 h-index: 0机构: UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, England Addenbrookes Hosp, Cambridge Inst Med Res, Dept Med Genet, Cambridge CB2 0XY, England UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandMomin, Aliakmal论文数: 0 引用数: 0 h-index: 0机构: UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, England UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandRugiero, Francois论文数: 0 引用数: 0 h-index: 0机构: UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, England UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandMarsh, Steve论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neurosci Physiol & Pharmacol, London WC1E 6BT, England UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandWoods, C. Geoffrey论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Cambridge Inst Med Res, Dept Med Genet, Cambridge CB2 0XY, England UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandJones, Nicholas G.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Dept Neurorestorat, Wolfson CARD, London SE1 1UL, England UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandPaterson, Kathryn J.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Dept Neurorestorat, Wolfson CARD, London SE1 1UL, England UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandFricker, Florence R.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Dept Neurorestorat, Wolfson CARD, London SE1 1UL, England UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandVillegas, Andres论文数: 0 引用数: 0 h-index: 0机构: Univ Antioquia, Fac Med, Grp Neurociencias, Medellin, Colombia UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandAcosta, Natalia论文数: 0 引用数: 0 h-index: 0机构: Univ Antioquia, Fac Med, Grp Neurociencias, Medellin, Colombia UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandPineda-Trujillo, Nicolas G.论文数: 0 引用数: 0 h-index: 0机构: Univ Antioquia, Fac Med, Grp Mapeo Genet, Medellin, Colombia UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandDiego Ramirez, Juan论文数: 0 引用数: 0 h-index: 0机构: Univ Antioquia, Fac Med, Grp Neurociencias, Medellin, Colombia UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandZea, Julian论文数: 0 引用数: 0 h-index: 0机构: Univ Antioquia, Fac Med, Grp Neurociencias, Medellin, Colombia UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandBurley, Mari-Wyn论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Genet Evolut & Environm, London WC1E 6BT, England UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandBedoya, Gabriel论文数: 0 引用数: 0 h-index: 0机构: Univ Antioquia, Fac Med, Grp Mapeo Genet, Medellin, Colombia UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandBennett, David L. H.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Dept Neurorestorat, Wolfson CARD, London SE1 1UL, England UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, EnglandWood, John N.论文数: 0 引用数: 0 h-index: 0机构: UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, England Seoul Natl Univ, Dept Mol Med & Biopharmaceut Sci, World Class Univ, Seoul 151, South Korea UCL, Wolfson Inst Biomed Res, Mol Nocicept Grp, London WC1E 6BT, England论文数: 引用数: h-index:机构:
- [5] Gain-of-Function Mutation of KIT Ligand on Melanin Synthesis Causes Familial Progressive Hyperpigmentation[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (05) : 672 - 677Wang, Zhi-Qiang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 Chinese Acad Sci, Inst Hlth Sci, Shanghai Inst Biol Sci, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R ChinaSi, Lizhen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 Chinese Acad Sci, Inst Hlth Sci, Shanghai Inst Biol Sci, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R ChinaTang, Quan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 Chinese Acad Sci, Inst Hlth Sci, Shanghai Inst Biol Sci, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R ChinaLin, Debao论文数: 0 引用数: 0 h-index: 0机构: Guiyang Med Coll, Dept Dermatol, Guiyang 550001, Guizhou, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R ChinaFu, Zhangjie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 Chinese Acad Sci, Inst Hlth Sci, Shanghai Inst Biol Sci, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R ChinaZhang, Jing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 Chinese Acad Sci, Inst Hlth Sci, Shanghai Inst Biol Sci, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R ChinaCui, Bin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 Chinese Acad Sci, Inst Hlth Sci, Shanghai Inst Biol Sci, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R ChinaZhu, Yufei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 Chinese Acad Sci, Inst Hlth Sci, Shanghai Inst Biol Sci, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R ChinaKong, Xianghua论文数: 0 引用数: 0 h-index: 0机构: Affiliated Hosp Binzhou Med Coll, Clin Lab, Binzhou 256603, Shandong, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R ChinaDeng, Min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 Chinese Acad Sci, Inst Hlth Sci, Shanghai Inst Biol Sci, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R China论文数: 引用数: h-index:机构:Xu, Heng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 Chinese Acad Sci, Inst Hlth Sci, Shanghai Inst Biol Sci, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R ChinaLe, Weidong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 Chinese Acad Sci, Inst Hlth Sci, Shanghai Inst Biol Sci, Shanghai 200025, Peoples R China Shanghai Jiao Tong Univ, State Key Lab Med Genom, Ruijin Hosp, Sch Med, Shanghai 200025, Peoples R China论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
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Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, FinlandNurmi, Katariina论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Fac Med, Clinicum, Helsinki, Finland Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, Finland论文数: 引用数: h-index:机构:Einarsdottir, Elisabet论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Res Programs Unit, Mol Neurol, Helsinki, Finland Folkhalsan Inst Genet, Helsinki, Finland Karolinska Inst, Dept Biosci & Nutr, Stockholm, Sweden Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, FinlandJouppila, Annukka论文数: 0 引用数: 0 h-index: 0机构: Helsinki Univ Hosp, Res Inst, Helsinki, Finland Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, FinlandPettersson, Tom论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Fac Med, Clinicum, Helsinki, Finland Helsinki Univ Hosp, Dept Internal Med & Rehabil, Helsinki, Finland Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, Finland论文数: 引用数: h-index:机构:Krjutskov, Kaarel论文数: 0 引用数: 0 h-index: 0机构: Folkhalsan Inst Genet, Helsinki, Finland Helsinki Univ Hosp, Res Inst, Helsinki, Finland Competence Ctr Hlth Technol, Tartu, Estonia Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, FinlandSaavalainen, Paivi论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Res Programs Unit, Immunobiol, Helsinki, Finland Univ Helsinki, Dept Med & Clin Genet, Helsinki, Finland Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, FinlandJarvinen, Asko论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Childrens Hosp, Adult Immunodeficiency Unit, Inflammat Ctr,Infect Dis, Helsinki, Finland Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, FinlandMuurinen, Mari论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Res Programs Unit, Mol Neurol, Helsinki, Finland Folkhalsan Inst Genet, Helsinki, Finland Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, Finland论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Curtis, James论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Med, Cambridge, England Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, FinlandNordstrom, Dan论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Fac Med, Clinicum, Helsinki, Finland Univ Helsinki, Childrens Hosp, Dept Rheumatol, Inflammat Ctr, Helsinki, Finland Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, FinlandFlaumenhaft, Robert论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Beth Israel Deaconess Med Ctr, Dept Med, Boston, MA 02115 USA Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, FinlandVaarala, Outi论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Childrens Hosp, Pediat Res Ctr, Helsinki, Finland AstraZeneca, Resp Inflammat & Autoimmun, Innovat Med, Molndal, Sweden Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, FinlandKovanen, Panu E.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Pathol, Helsinki, Finland Helsinki Univ Hosp, HUSLAB, Helsinki, Finland Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, Finland论文数: 引用数: h-index:机构:Ranki, Annamari论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Childrens Hosp, Dept Dermatol, Inflammat Ctr,Allergol & Venereal Dis, Helsinki, Finland Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, FinlandKere, Juha论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Res Programs Unit, Mol Neurol, Helsinki, Finland Folkhalsan Inst Genet, Helsinki, Finland Karolinska Inst, Dept Biosci & Nutr, Stockholm, Sweden Kings Coll London, Guys Hosp, Sch Basic & Med Biosci, London, England Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, FinlandLehto, Markku论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Diabet & Obes Res Program, Res Programs Unit, Helsinki, Finland Folkhalsan Res Ctr, Helsinki, Finland Univ Helsinki, Childrens Hosp, Abdominal Ctr Nephrol, Helsinki, Finland Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, FinlandNotarangelo, Luigi D.论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Clin Immunol & Microbiol, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, FinlandNejentsev, Sergey论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Med, Cambridge, England Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, FinlandEklund, Kari K.论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Fac Med, Clinicum, Helsinki, Finland Univ Helsinki, Childrens Hosp, Dept Rheumatol, Inflammat Ctr, Helsinki, Finland Orton Orthopaed Hosp, Helsinki, Finland Invalid Fdn, Res Inst, Helsinki, Finland Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, Finland论文数: 引用数: h-index:机构:Taipale, Jussi论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Biomedicum Helsinki, Res Programs Unit, Genome Scale Biol, Helsinki, Finland Karolinska Inst, Dept Med Biochem & Biophys, Div Funct Genom & Syst Biol, Solna, Sweden Univ Cambridge, Dept Biochem, Cambridge, England Univ Helsinki, HiLIFE, Inst Biotechnol, Helsinki, FinlandSeppanen, Mikko R. 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