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Hyper-responsiveness to DDAVP for patients with type I von Willebrand's disease and normal intra-platelet von Willebrand factor.
- Published in:
- European Journal of Haematology, 1988, v. 40, n. 2, p. 163, doi. 10.1111/j.1600-0609.1988.tb00815.x
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- Publication type:
- Article
F8 gene mutation profile and ITT response in a cohort of Italian haemophilia A patients with inhibitors.
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- Haemophilia, 2007, v. 13, n. 4, p. 361, doi. 10.1111/j.1365-2516.2007.01437.x
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- Article
Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene.
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- Haemophilia, 2007, v. 13, n. 3, p. 311, doi. 10.1111/j.1365-2516.2007.01459.x
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- Article
Tyr2105Cys mutation in exon 22 of FVIII gene is a risk factor for the development of inhibitors in patients with mild/moderate haemophilia A.
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- Haemophilia, 2006, v. 12, n. 4, p. 448, doi. 10.1111/j.1365-2516.2006.01297.x
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- Article
Von Willebrand's disease: clinical management.
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- Haemophilia, 2006, v. 12, p. 152, doi. 10.1111/j.1365-2516.2006.01273.x
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- Article
Guidelines for the diagnosis and management of von Willebrand disease in Italy.
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- Haemophilia, 2002, v. 8, n. 5, p. 607, doi. 10.1046/j.1365-2516.2002.00672.x
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- Publication type:
- Article
Acquired haemophilia: experience of two Italian centres with 17 new cases.
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- Haemophilia, 1997, v. 3, n. 3, p. 183, doi. 10.1046/j.1365-2516.1997.00102.x
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- Article
Desmopressin and type II B von Willebrand disease.
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- Haemophilia, 1996, v. 2, n. 2, p. 73, doi. 10.1111/j.1365-2516.1996.tb00018.x
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- Publication type:
- Article
Recurrent Life-Threatening Epistaxis in a Child with Bernard-Soulier Syndrome Controlled by Bilateral Ligation of External Carotids and Ethmoidal Arteries.
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- Acta Haematologica, 1987, v. 77, n. 3, p. 183, doi. 10.1159/000205988
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- Article
Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: Definite evidence for the non-penetrance of the C2362F mutation.
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- American Journal of Hematology, 2007, v. 82, n. 5, p. 376, doi. 10.1002/ajh.20803
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- Publication type:
- Article
Homozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand factor resulting in autosomal recessive severe von Willebrand disease.
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- British Journal of Haematology, 2006, v. 133, n. 4, p. 409, doi. 10.1111/j.1365-2141.2006.06055.x
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- Publication type:
- Article
Comorbidities in persons with haemophilia aged 60 years or more compared with age‐matched people from the general population.
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- Haemophilia, 2018, v. 24, n. 1, p. e6, doi. 10.1111/hae.13379
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- Article
Natural history and clinical characteristics of inhibitors in previously treated haemophilia A patients: a case series.
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- Haemophilia, 2017, v. 23, n. 2, p. 255, doi. 10.1111/hae.13167
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- Article
European retrospective study of real-life haemophilia treatment.
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- Haemophilia, 2017, v. 23, n. 1, p. 105, doi. 10.1111/hae.13111
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- Publication type:
- Article
Low bleeding rates with increase or maintenance of physical activity in patients treated with recombinant factor VIII Fc fusion protein ( rFVIIIFc) in the A-LONG and Kids A- LONG Studies.
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- Haemophilia, 2017, v. 23, n. 1, p. e39, doi. 10.1111/hae.13125
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- Publication type:
- Article
Laboratory aspects of von Willebrand disease: test repertoire and options for activity assays and genetic analysis.
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- Haemophilia, 2014, v. 20, p. 65, doi. 10.1111/hae.12410
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- Publication type:
- Article
Laboratory aspects of von Willebrand disease: test repertoire and options for activity assays and genetic analysis.
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- Haemophilia, 2014, v. 20, p. 65, doi. 10.1111/hae.12410
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- Publication type:
- Article
The spectrum of factor XI deficiency in Italy.
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- Haemophilia, 2014, v. 20, n. 1, p. 106, doi. 10.1111/hae.12257
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- Article
Inhibitors in haemophilia B: the Italian experience.
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- Haemophilia, 2013, v. 19, n. 5, p. 686, doi. 10.1111/hae.12158
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- Publication type:
- Article
Efficacy and safety during formulation switch of a pasteurized VWF/FVIII concentrate: results from an Italian prospective observational study in patients with von Willebrand disease.
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- Haemophilia, 2013, v. 19, n. 1, p. 82, doi. 10.1111/hae.12005
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- Article
Intracranial haemorrhage in the Italian population of haemophilia patients with and without inhibitors.
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- Haemophilia, 2012, v. 18, n. 1, p. 39, doi. 10.1111/j.1365-2516.2011.02611.x
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- Publication type:
- Article
Further evidence of heterogeneity of gene defects in Italian families with factor XIII deficiency.
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- Haemophilia, 2012, v. 18, n. 1, p. e6, doi. 10.1111/j.1365-2516.2011.02622.x
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- Article
Central nervous system bleeding in patients with rare bleeding disorders.
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- Haemophilia, 2012, v. 18, n. 1, p. 34, doi. 10.1111/j.1365-2516.2011.02545.x
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- Article
Is a reduced intensity treatment with Rituximab effective in acquired haemophilia A?
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- Haemophilia, 2011, v. 17, n. 5, p. 817, doi. 10.1111/j.1365-2516.2011.02503.x
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- Publication type:
- Article
Successful use of recombinant FVIIa in combined factor V and FVIII deficiency with surgical bleeding resistant to substitutive treatment. A case report.
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- Haemophilia, 2011, v. 17, n. 1, p. 160, doi. 10.1111/j.1365-2516.2010.02368.x
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- Publication type:
- Article
A comparison between two semi-quantitative bleeding scales for the diagnosis and assessment of bleeding severity in type 1 von Willebrand disease.
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- Haemophilia, 2011, v. 17, n. 1, p. 165, doi. 10.1111/j.1365-2516.2010.02381.x
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- Article
F8 mRNA studies in haemophilia A patients with different splice site mutations.
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- Haemophilia, 2010, v. 16, n. 5, p. 786, doi. 10.1111/j.1365-2516.2010.02250.x
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- Article
von Willebrand’s disease diagnosis and laboratory issues.
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- Haemophilia, 2010, v. 16, p. 67, doi. 10.1111/j.1365-2516.2010.02296.x
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- Article
Severe spontaneous arterial thrombotic manifestations in patients with inherited hypo- and afibrinogenemia.
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- Haemophilia, 2009, v. 15, n. 2, p. 533, doi. 10.1111/j.1365-2516.2009.01939.x
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- Article
New approaches in the measurement of coagulation.
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- Haemophilia, 2008, v. 14, p. 104, doi. 10.1111/j.1365-2516.2008.01744.x
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- Article
Bleeding scores in inherited bleeding disorders: clinical or research tools?
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- Haemophilia, 2008, v. 14, n. 3, p. 415, doi. 10.1111/j.1365-2516.2007.01648.x
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- Article
Acquired transitory factor XI inhibitor after gynaecological surgery.
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- 2008
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- Publication type:
- Letter
Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bβ and γ chain mutations.
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- 2008
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- Publication type:
- Letter
Desmopressin for the treatment of haemophilia.
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- Haemophilia, 2008, v. 14, p. 15, doi. 10.1111/j.1365-2516.2007.01606.x
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- Publication type:
- Article
Molecular characterization of five Italian families with inherited severe factor XIII deficiency.
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- Haemophilia, 2008, v. 14, n. 1, p. 96, doi. 10.1111/j.1365-2516.2007.01603.x
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- Publication type:
- Article
Autosomal Recessive von Willebrand Disease Type 1 or 2 due to Homozygous or Compound Heterozygous Mutations in the von Willebrand Factor Gene.
- Published in:
- Acta Haematologica, 2009, v. 121, n. 2/3, p. 106, doi. 10.1159/000214850
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- Article
Mutation pattern in clinically asymptomatic coagulation factor VII deficiency.
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- Human Mutation, 1996, v. 8, n. 2, p. 108, doi. 10.1002/(SICI)1098-1004(1996)8:2<108::AID-HUMU2>3.0.CO;2-7
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- Article
Topologically equivalent mutations causing dysfunctional coagulation factors VII (Ala→Val) and X (Ser→ Pro).
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- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1175
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- Article
Molecular bases of CRM<sup>+</sup> factor X deficiency: a frequent mutation (Ser334Pro) in the catalytic domain and a substitution (Glul02Lys) in the second EGF-like domain.
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- British Journal of Haematology, 1995, v. 90, n. 4, p. 910, doi. 10.1111/j.1365-2141.1995.tb05214.x
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- Article
Identification of nine novel mutations in type I antithrombin deficiency by heteroduplex screening.
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- British Journal of Haematology, 1993, v. 84, n. 4, p. 656, doi. 10.1111/j.1365-2141.1993.tb03142.x
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- Publication type:
- Article
Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381 → Ser) in the substrate-binding pocket.
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- British Journal of Haematology, 1993, v. 84, n. 2, p. 285, doi. 10.1111/j.1365-2141.1993.tb03066.x
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- Publication type:
- Article