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1

K, MacCallum P., and Meade T. W, eds. Thrombophilia. London: Baillière Tindall, 1999.

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2

W, Meade T., ed. Thrombophilia. London: Baillière Tindall, 1994.

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3

Benjamin, Brenner, ed. Thrombophilia in pregnancy. London: Baillière Tindall, 2003.

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4

Benjamin, Brenner, ed. Thrombophilia in pregnancy. London: Baillière Tindall, 2003.

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5

Lockwood, Charles J. Thrombosis, thrombophilia and thromboembolism. Washington, DC: American College of Obstetricians and Gynecologists, 2007.

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6

Z, Goldhaber Samuel, and Ridker Paul M. 1959-, eds. Thrombosis and thromboembolism. New York: M. Dekker, 2002.

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7

J, Seghatchian M., Samama Meyer M, and Hecker S. P, eds. Hypercoagulable states: Fundamental aspects, acquired disorders, and congenital thrombophilia. Boca Raton: CRC Press, 1996.

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8

R, Higgins J., and Brennecke S. P, eds. Inherited thrombophilias. London: Baillière Tindall, 2003.

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9

Benjamin, Brenner, Marder Victor J, and Conard Jacqueline, eds. Women's issues in thrombosis and hemostasis. London: Martin Dunitz, 2002.

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10

E, Preston F., Kitchen Steve Dr, and Olson John David 1944-, eds. Quality in laboratory hemostasis and thrombosis. Chichester, West Sussex: Wiley-Blackwell, 2009.

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11

Blood and circulatory disorders sourcebook: Basic consumer health information about blood and circulatory system disorders, such as anemia, leukemia, lymphoma, rh disease, hemophilia, thrombophilia, other bleeding and clotting deficiencies, and artery, vascular, and venous diseases, including facts about blood types, blood donation, bone marrow and stem cell transplants, tests and medications, and tips for maintaining circulatory health; along with a glossary of related terms and a list of resources for additional help and information. 3rd ed. Detroit: Omnigraphics, 2010.

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12

Tranquilli, Andrea, ed. Thrombophilia. InTech, 2011. http://dx.doi.org/10.5772/1329.

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13

Thrombophilia (Bailliere's Clinical Haematology). Elsevier, 1994.

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14

Ivanov, Petar, ed. Pregnancy Thrombophilia - The Unsuspected Risk. InTech, 2013. http://dx.doi.org/10.5772/46070.

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15

Ridker, Paul M., and Samuel Z. Goldhaber. Thrombosis and Thromboembolism. Taylor & Francis Group, 2001.

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16

Ridker, Paul M., and Samuel Z. Goldhaber. Thrombosis and Thromboembolism. Taylor & Francis Group, 2019.

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17

Ridker, Paul M., and Samuel Z. Goldhaber. Thrombosis and Thromboembolism. Taylor & Francis Group, 2001.

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18

(Editor), M. J. Seghatchian, Samama M. M. (Editor), and S. P. Hecker (Editor), eds. Hypercoagulable States: Fundamental Aspects, Acquired Disorders, and Congenital Thrombophilia. CRC Press, 1996.

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19

Thrombophilia & Women's Health, An Issue of Obstetrics and Gynecology Clinics. Saunders, 2006.

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20

(Editor), Samuel Z. Goldhaber, and Paul M. Ridker (Editor), eds. Thrombosis and Thromboembolism (Fundamental and Clinical Cardiology). Informa Healthcare, 2001.

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21

Ridker, Paul M., and Samuel Z. Goldhaber. Thrombosis and Thromboembolism. Taylor & Francis Group, 2001.

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22

Alikhan, Raza. Prothrombotic conditions. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0285.

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The term thrombophilia is used to describe an individual who has a tendency to develop thrombosis. Arterial thrombosis is usually linked with classical risk factors such as age, smoking, hypertension, hyperlipidaemia, or diabetes; a thrombophilia assessment and workup is not usually considered in cases of arterial thrombosis. A clinically useful approach to the diagnosis and management of a patient with a venous thrombotic process is to categorize the disorder as either a primary (inherited) or secondary (acquired) hypercoagulable state. This topic addresses the diagnosis and management of prothrombotic conditions.
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23

Hvas, Anne-Mette, Erik L. Grove, and Steen Dalby Kristensen. Biomarkers of coagulation and thrombosis. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199687039.003.0038.

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Coagulation is evaluated by conventional coagulation analyses, often supplemented by point-of-care tests. Recently, a number of point-of-care tests for evaluation of platelet function and the efficacy of antiplatelet therapy has been investigated. Thrombophilia contributes to the risk of thrombosis, and a battery of complex assays is required to identify all thrombophilias. Disseminated intravascular coagulation is characterized by microthrombosis and clinical bleeding. A scoring system for overt disseminated intravascular coagulation provides a five-step diagnostic algorithm. The cornerstone of the management of disseminated intravascular coagulation is treatment of the underlying triggering condition. Heparin-induced thrombocytopenia is an adverse immunological effect of heparin therapy. Besides thrombocytopenia, the major clinical consequence of heparin-induced thrombocytopenia is an increased risk of thrombosis. The diagnosis is based on clinical symptoms and detection of platelet-activating heparin-induced thrombocytopenia antibodies. When heparin-induced thrombocytopenia is strongly suspected, it is recommended to stop heparin treatment, investigate for heparin-induced thrombocytopenia antibodies, and initiate non-heparin anticoagulant treatment.
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24

Hvas, Anne-Mette, Erik L. Grove, and Steen Dalby Kristensen. Biomarkers of coagulation and thrombosis. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199687039.003.0038_update_001.

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Coagulation is evaluated by conventional coagulation analyses, often supplemented by point-of-care tests. Recently, a number of point-of-care tests for evaluation of platelet function and the efficacy of antiplatelet therapy has been investigated. Thrombophilia contributes to the risk of thrombosis, and a battery of complex assays is required to identify all thrombophilias. Disseminated intravascular coagulation is characterized by microthrombosis and clinical bleeding. A scoring system for overt disseminated intravascular coagulation provides a five-step diagnostic algorithm. The cornerstone of the management of disseminated intravascular coagulation is treatment of the underlying triggering condition. Heparin-induced thrombocytopenia is an adverse immunological effect of heparin therapy. Besides thrombocytopenia, the major clinical consequence of heparin-induced thrombocytopenia is an increased risk of thrombosis. The diagnosis is based on clinical symptoms and detection of platelet-activating heparin-induced thrombocytopenia antibodies. When heparin-induced thrombocytopenia is strongly suspected, it is recommended to stop heparin treatment, investigate for heparin-induced thrombocytopenia antibodies, and initiate non-heparin anticoagulant treatment.
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25

Provan, Drew, Trevor Baglin, Inderjeet Dokal, and Johannes de Vos. Haemostasis and thrombosis. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199683307.003.0010.

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Assessing haemostasis - The coagulation system - Laboratory tests - Platelets - Bleeding - Bleeding: laboratory investigations - Bleeding: therapeutic products - von Willebrand disease - Haemophilia A and B - Rare congenital coagulation disorders - Congenital thrombocytopenias - Congenital platelet function defects - Congenital vascular disorders - Haemorrhagic disease of the newborn - Thrombocytopenia (acquired) - Specific thrombocytopenic syndromes - Disseminated intravascular coagulation - Liver disease - Renal disease - Acquired anticoagulants and inhibitors - Treatment of spontaneous FVIII inhibitor - Acquired disorders of platelet function - Henoch–Schönlein purpura - Perioperative bleeding and massive blood loss - Massive blood loss - Heparin - Heparin induced thrombocytopenia/with thrombosis (HIT/T) - Oral anticoagulant therapy (warfarin, VKAs) - New oral anticoagulant drugs - Thrombosis - Risk assessment and thromboprophylaxis - Example of VTE risk assessment - Heritable thrombophilia - Acquired thrombophilia - Thrombotic thrombocytopenic purpura (TTP) - Haemolytic uraemic syndrome (HUS) - Heparin-induced thrombocytopenia (HIT)
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26

Provan, Drew, Trevor Baglin, Inderjeet Dokal, Johannes de Vos, and Angela Theodoulou. Haemostasis and thrombosis. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199683307.003.0010_update_001.

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Assessing haemostasis - The coagulation system - Laboratory tests - Platelets - Bleeding - Bleeding: laboratory investigations - Bleeding: therapeutic products - von Willebrand disease - Haemophilia A and B - Rare congenital coagulation disorders - Congenital thrombocytopenias - Congenital platelet function defects - Congenital vascular disorders - Haemorrhagic disease of the newborn - Thrombocytopenia (acquired) - Specific thrombocytopenic syndromes - Disseminated intravascular coagulation - Liver disease - Renal disease - Acquired anticoagulants and inhibitors - Treatment of spontaneous FVIII inhibitor - Acquired disorders of platelet function - Henoch–Schönlein purpura - Perioperative bleeding and massive blood loss - Massive blood loss - Heparin - Heparin induced thrombocytopenia/with thrombosis (HIT/T) - Oral anticoagulant therapy (warfarin, VKAs) - New oral anticoagulant drugs - Thrombosis - Risk assessment and thromboprophylaxis - Example of VTE risk assessment - Heritable thrombophilia - Acquired thrombophilia - Thrombotic thrombocytopenic purpura (TTP) - Haemolytic uraemic syndrome (HUS) - Heparin-induced thrombocytopenia (HIT)
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27

Fox, Grenville, Nicholas Hoque, and Timothy Watts. Nephrological and urological problems. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198703952.003.0015.

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This chapter gives a brief overview of haemopoiesis and describes common haematological problems in the newborn period, with practical evidence-based guidance to investigation (including coagulation screening) and treatment. Topics include anaemia, haemolytic disease of the newborn, polycythaemia, neutropenia, and thrombocytopenia. An overview of clotting problems includes haemophilias, vitamin K dependent bleeding, thrombophilia and thrombosis.
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28

Schramm, Wolfgang, and Inge Scharrer. 26. Hämophilie-Symposion: H.I.V.-Infektion, Sicherheit von Faktorenkonzentraten, Hämophilie-Therapie, Pädiatrie, Thrombophilie, Thrombophile Diathese, ... Diathese, Kasuistiken. Springer, 1996.

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29

Schramm, Wolfgang, and Inge Scharrer. 26. Hämophilie-Symposion: HIV-Infektion, Sicherheit Von Faktorenkonzentraten, Hämophilie-Therapie, Pädiatrie, Thrombophilie, Thrombophile Diathese, Hämorrhagische Diathese, Kasuistiken. Springer London, Limited, 2013.

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30

Yurdakul, Sebahattin, Emire Seyahi, and Hasan Yazici. Behçet’s syndrome. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199642489.003.0135.

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Behçet's syndrome is a systemic inflammatory panvasculitis (affecting all sizes of vessels) of unknown aetiology. It is in vogue to include it among the systemic autoinflammatory conditions. Behçet's syndrome is more frequent along the ancient 'Silk Route' across Asia than it is in Western countries. The usual onset is the second or third decade, equally affecting either gender. However, young patients and male patients have more severe disease. Almost all patients have recurrent oral ulceration. Scar-forming genital ulcers, a variety of skin lesions including acneiform, erythema nodosum-like lesions, arthritis, potentially blinding panuveitis, thrombophlebitis, gastrointestinal disease, central nervous system (CNS) involvement, and life-threatening bleeding pulmonary artery aneurysms are seen. The pathergy phenomenon is a heightened tissue inflammatory response. The strongest genetic association is with HLA B51. There are immunological aberrations but not prominent enough to call it an autoimmune disease. Similarly, Behçet's syndrome does not fit easily into the broad concept of autoinflammatory diseases. The histopathology is also non-specific and the diagnosis is mainly clinical. Differentiation from Crohn's disease is very difficult. In more than one-half of the patients the disease burns out in time, thus only symptomatic therapy is indicated in some patients. However, eye involvement, pulmonary vascular disease, thrombophilic complications, CNS involvement, and gastrointestinal disease need prompt recognition and treatment. Brief courses of glucocorticosteroids along with immunosuppressives including the newer biologicals, interferon, and colchicine are commonly used. However, controlled clinical trials are not available for some of these medications especially when thrombophilia, CNS, and gastrointestinal disease are present.
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31

Carton, James. Haematopathology. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198759584.003.0015.

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This chapter discusses haematopathology, including iron deficiency anaemia, anaemia of chronic disease, megaloblastic anaemias, hereditary spherocytosis, glucose-6-phosphate dehydrogenase deficiency, thalassaemias, sickle-cell disorders, idiopathic thrombocytopenic purpura (ITP), thrombotic thrombocytopenic purpura (TTP), von Willebrand disease, haemophilia, thrombophilia, acute B-lymphoblastic leukaemia, acute myeloid leukaemias, chronic lymphocytic leukaemia (CLL), chronic myelogenous leukaemia, polycythaemia vera (PV), essential thrombocythaemia (ET), primary myelofibrosis (PMF), myelodysplastic syndromes (MDS), follicular lymphoma, diffuse large B-cell lymphoma, Burkitt’s lymphoma (BL), extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma), mantle cell lymphoma, classical Hodgkin’s lymphoma (cHL), lymphoplasmacytic lymphoma (LPL), plasma cell myeloma, primary amyloidosis, and mature T-cell non-Hodgkin’s lymphomas.
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32

Chung, Melissa, and Warren Lo. Pediatric Stroke. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0106.

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A variety of congenital and genetic disorders not seen frequently in adults may be responsible for stroke in infants and children. Stroke in newborn infants is as common as stroke in elderly individuals due to risk factor such as congenital heart disease, thrombophilia associated with polycythemia in neonates and genetic disorders, high estrogen impact from the mother during pregnancy, and inflammation due to infections. Stroke can also be caused by genetic disorders such as Ehleers-Danlos syndrome, Sturge-Weber syndrome, and vasculopathies such as lupus and fibromuscular dysplasia. Arterial dissection may be related to trauma and athletic injuries. Some drugs used to treat cancer such as asparaginase can also cause strokes, and infants and children can also present with venous sinus thrombosis associated with critical illness and dehydration.
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33

Poretti, Andrea, and Michael V. Johnston. Genetic Disorders and Stroke. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0110.

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A variety of monogenic and polygenic genetic disorders have been linked to stroke, making it important for the clinician to keep up with the new discoveries and the potential to provide new gene-based therapies. Hematologic disorders such as sickle cell disease and thrombophilia due to mutations in prothrombin, factor V Leiden, and homocysteine metabolism are fairly well known, but mutations in mitochondrial metabolism and matrix metalloproteinases are less recognized. In addition, results of genome-wide association studies (GWAS) in stroke populations are revealing mutations that could predispose to stroke in specific ethnic populations. These studies are also revealing some crossover in mutations between stroke and familial hemiplegic migraine as well as mutations in growth factors such as brain derived neurotrophic factor (BDNF) that appear to influence the recovery from stroke by altering cortical plasticity.
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34

Ballal, Salma, and Ian A. Greer. Thromboembolic disorders in pregnancy. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780198713333.003.0037.

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Thromboembolism in pregnancy remains a major cause of direct maternal mortality in the Western world. Thromboembolic events in pregnancy are spread across the three trimesters but the puerperium is the time of greatest risk with a relative risk of around 20-fold compared to the non-pregnant patient. When compared to the non-pregnant population where distal deep vein thrombosis is most common, most events in pregnancy are iliofemoral and left sided. Given the multi-hit nature of the problem, awareness of risk factors is important. The two most significant single risk factors in pregnancy for thromboembolism are history of previous venous thromboembolism and thrombophilia. The identification of risk factors will guide the use of thromboprophylaxis and assist diagnosis; however, objective diagnosis is required. Prophylaxis and treatment focuses on low-molecular-weight heparin, which is considered safe in pregnancy.
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35

Putaala, Jukka, and Nicolas Martinez-Majander. Risk factors. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198722366.003.0002.

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Risk factors in young-onset stroke include both traditional and unconventional as well as both chronic and temporal ones. In young patients, unconventional risk factors such as oral contraceptive use, antiphospholipid antibodies, genetic thrombophilia, acute infections, illicit drug use, and migraine may play a greater role than in elderly patients. However, recent large studies have challenged this traditional view suggesting that young adult stroke would occur mostly due to such unconventional risk factors. These studies have shown a high prevalence of in particular modifiable behavioural risk factors, including physical inactivity, high-risk alcohol consumption, and smoking. Since consequences of a young-onset stroke are greater regarding quality-adjusted life and economic impact, detection and treatment of especially modifiable risk factors are of paramount importance. This chapter reviews the burden of both traditional and less well-documented risk factors in young ischaemic stroke patients and discusses their strength of evidence and mechanisms of association.
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36

Acute Pulmonary Embolism: A Challenge for Hemostasiology. Steinkopff-Verlag Darmstadt, 2000.

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37

Marder, Victor J., Benjamin Brenner, and Jacqueline Conard. Women's Issues in Thrombosis and Hemostasis. Taylor & Francis Group, 2002.

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38

Marder, Victor J., Benjamin Brenner, and Jacqueline Conard. Women's Issues in Thrombosis and Hemostasis. Taylor & Francis Group, 2004.

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39

(Editor), Benjamin Brenner, Victor J. Marder (Editor), and Jacqueline Conard (Editor), eds. Women's Issues in Thrombosis and Hemostasis. Informa Healthcare, 2002.

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40

Olson, John D., Steve Kitchen, F. Eric Preston, and Frits R. Rosendaal. Quality in Laboratory Hemostasis and Thrombosis. Wiley & Sons, Incorporated, John, 2011.

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41

Olson, John D., Steve Kitchen, and F. Eric Preston. Quality in Laboratory Hemostasis and Thrombosis. Wiley & Sons, Limited, John, 2013.

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42

Olson, John D., Steve Kitchen, and F. Eric Preston. Quality in Laboratory Hemostasis and Thrombosis. Wiley & Sons, Incorporated, John, 2013.

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43

Olson, John D., Steve Kitchen, F. Eric Preston, and Frits R. Rosendaal. Quality in Laboratory Hemostasis and Thrombosis. Wiley & Sons, Incorporated, John, 2011.

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44

Olson, John D., Steve Kitchen, and F. Eric Preston. Quality in Laboratory Hemostasis and Thrombosis. Wiley & Sons, Incorporated, John, 2013.

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45

Quality in Laboratory Hemostasis and Thrombosis. Wiley-Blackwell, 2013.

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46

Olson, John D., Steve Kitchen, and F. Eric Preston. Quality in Laboratory Hemostasis and Thrombosis. Wiley & Sons, Incorporated, John, 2013.

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47

Quality in Laboratory Hemostasis and Thrombosis. Wiley & Sons, Limited, John, 2009.

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48

Scharrer, I. 23. Hamophilie-Symposion Hamburg 1992: Hiv-Infektion, Hiv-Assoziierte Neurologische Studien, Hamophilie Des Kniegelenkes, Thrombophilie. Springer-Verlag, 1993.

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49

Schramm, Wolfgang, and Inge Scharrer. 28. Hämophilie-Symposion Hamburg 1997 : Verhandlungsberichte : Virusinfektion Synovitis ― Pathogenese und Behandlung Thrombophilie: Prothrombinmutation ... Hämostaseologie Kasuistiken. Springer, 1998.

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50

Zimmermann, R., H. Beeser, G. Landbeck, K. Lechner, E. Wenzel, E. Seifried, Wolfgang Schramm, et al. 22. Hämophilie-Symposion Hamburg 1991 : Verhandlungsberichte: Frühe Interventionstherapie bei HIV-infizierten Hämophilen; Psychosoziale Betreuung ... Thrombophilie. Springer, 1992.

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