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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

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第一作者: Simeoni, Ilenia
作者: Simeoni, Ilenia [1] ; Stephens, Jonathan C. [2] ; Hu, Fengyuan [3] ; Deevi, Sri V. V. [4] ; Megy, Karyn [5] ; Bariana, Tadbir K. [6] ; Lentaigne, Claire [7] ; Schulman, Sol [8] ; Sivapalaratnam, Suthesh [9] ; Vries, Minka J. A. [10] ; Westbury, Sarah K. [11] ; Greene, Daniel [12] ; Papadia, Sofia [13] ; Alessi, Marie-Christine [14] ; Attwood, Antony P. [15] ; Ballmaier, Matthias [16] ; Baynam, Gareth [17] ; Bermejo, Emilse [18] ; Bertoli, Marta [19] ; Bray, Paul F. [20] ; Bury, Loredana [21] ; Cattaneo, Marco [22] ; Collins, Peter [23] ; Daugherty, Louise C. [24] ; Favier, Remi [25] ; French, Deborah L. [26] ; Furie, Bruce [27] ; Gattens, Michael [28] ; Germeshausen, Manuela [29] ; Ghevaert, Cedric [30] ; Goodeve, Anne C. [31] ; Guerrero, Jose A. [32] ; Hampshire, Daniel J. [33] ; Hart, Daniel P. [34] ; Heemskerk, Johan W. M. [35] ; Henskens, Yvonne M. C. [36] ; Hill, Marian [37] ; Hogg, Nancy [38] ; Jolley, Jennifer D. [39] ; Kahr, Walter H. [40] ; Kelly, Anne M. [41] ; Kerr, Ron [42] ; Kostadima, Myrto [43] ; Kunishima, Shinji ; Lambert, Michele P. ; Liesner, Ri ; Lopez, Jose A. ; Mapeta, Rutendo P. ; Mathias, Mary ; Millar, Carolyn M. ; Nathwani, Amit ; Neerman-Arbez, Marguerite ; Nurden, Alan T. ; Nurden, Paquita ; Othman, Maha ; Peerlinck, Kathelijne ; Perry, David J. ; Poudel, Pawan ; Reitsma, Pieter ; Rondina, Matthew T. ; Smethurst, Peter A. ; Stevenson, William ; Szkotak, Artur ; Tuna, Salih ; van Geet, Christel ; Whitehorn, Deborah ; Wilcox, David A. ; Zhang, Bin ; Revel-Vilk, Shoshana ; Gresele, Paolo ; Bellissimo, Daniel B. ; Penkett, Christopher J. ; Laffan, Michael A. ; Mumford, Andrew D. ; Rendon, Augusto ; Gomez, Keith ; Freson, Kathleen ; Ouwehand, Willem H. ; Turro, Ernest
作者单位: Barts Hlth Natl Hlth Serv Trust, Dept Haematol, London, England [1] Univ Perugia, Dept Internal Med, Sect Internal & Cardiovasc Med, I-06100 Perugia, Italy [2] Univ Toronto, Hosp Sick Children, Dept Paediat, Div Haematol Oncol, Toronto, ON M5G 1X8, Canada [3] Queens Univ, Sch Med, Dept Biomed & Mol Sci, Kingston, ON, Canada [4] Hop Xavier Arnozan, Inst Hosp Univ LIRYC, Pessac, France [5] Royal N Shore Hosp, Dept Haematol & Transfus Med, St Leonards, NSW 2065, Australia [6] Univ Milan, Azienda Osped San Paolo, Dipartimento Sci Salute, Unita Med, Milan, Italy [7] Univ Bristol, Sch Cellular & Mol Med, Bristol, Avon, England [8] Maastricht Univ, Dept Biochem, NL-6200 MD Maastricht, Netherlands [9] Ctr Med Univ Geneva, Dept Genet Med & Dev, Geneva, Switzerland [10] Hadassah Hebrew Univ, Med Ctr, Pediat Hematol Oncol Dept, Jerusalem, Israel [11] Univ London Imperial Coll Sci Technol & Med, Imperial Coll Acad Hlth Sci Ctr, Ctr Haematol [12] Hannover Med Sch, Pediat Hematol & Oncol, Hannover, Germany [13] Canc Res UK London Res Inst, London WC2A 3PX, England [14] Cleveland Clin, Lerner Res Inst, Genom Med Inst, Cleveland, OH 44106 USA [15] Childrens Hosp Philadelphia, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA [16] Ninewells Hosp, Dept Haematol, Dundee DD1 9SY, Scotland [17] Univ Alberta, Lab Med & Pathol, Edmonton, AB, Canada [18] San Pietro Fatebenefratelli Hosp, Unita Operat Semplice Dipartimentale, Med Genet, Rome, Italy [19] Cambridge Biomed Campus, Cambridge Univ Hosp Natl Hlth Serv Fdn Trust, Addenbrookes Hosp, Dept [20] Nottingham Univ Hosp Natl Hlth Serv Trust, Dept Clin Pathol, Empath Pathol Serv, Nottingham, England [21] Univ Cambridge, Dept Haematol, Long Rd, Cambridge CB2 0PT, England [22] Armand Trousseau Children Hosp, Hop Paris, Inserm U1170, Assistance Publ, Villejuif, France [23] Puget Sound Blood Ctr, Res Inst, Seattle, WA 98104 USA [24] Thomas Jefferson Univ, Jefferson Med Coll, Dept Med, Philadelphia, PA 19107 USA [25] Univ Western Australia, Sch Paediat & Child Hlth, Crawley, Australia [26] Natl Acad Med, Hematol Res Inst, Buenos Aires, DF, Argentina [27] Natl Hlth Serv Blood & Transplant, Components Dev Lab, Cambridge, England [28] Univ Utah, Sch Med, Eccles Inst Human Genet, Salt Lake City, UT USA [29] Univ Pittsburgh, Clin Genom Lab, Pittsburgh, PA USA [30] Fac Med Marseille, INSERM, F-13385 Marseille, France [31] Royal Free London Natl Hlth Serv Fdn Trust, Katharine Dormandy Haemophilia Ctr, London, England [32] Maastricht Univ, Cardiovasc Res Inst Maastricht, Dept Biochem, NL-6200 MD Maastricht, Netherlands [33] UCL, Inst Canc, Dept Haematol, London, England [34] Cardiff Univ, Sch Med, Inst Infect & Immun, Arthur Bloom Haemophilia Ctr, Cardiff CF10 3AX, S Glam [35] Inst Canc Res, London SW3 6JB, England [36] Univ Leuven, Ctr Mol & Vasc Biol, Dept Cardiovasc Sci, Leuven, Belgium [37] Med Coll Wisconsin, Childrens Hosp Wisconsin, Res Inst, Milwaukee, WI 53226 USA [38] Beth Israel Deaconess Med Ctr, Div Hemostasis & Thrombosis, Boston, MA 02215 USA [39] Univ Sheffield, Fac Med Dent & Hlth, Dept Infect Immun & Cardiovasc Dis, Haemostasis Res Grp [40] Nagoya Med Ctr, Natl Hosp Org, Clin Res Ctr, Nagoya, Aichi, Japan [41] Great Ormond St Hosp Children Natl Hlth Serv Trus, Dept Haematol, London, England [42] Leiden Univ, Med Ctr, Einthoven Lab Expt Vasc Med, Leiden, Netherlands [43]
发布时间 2017-04-06
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Blood: The Journal of the American Society of Hematology

Blood

2016年127卷23期

2791-2803页

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