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Hereditäres Angioödem in einer Familie mit spezifischen Mutationen sowohl im Plasminogen‐ als auch im SERPING1‐Gen.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2020, v. 18, n. 3, p. 215, doi. 10.1111/ddg.14036_g
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- Publication type:
- Article
Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes.
- Published in:
- Journal der Deutschen Dermatologischen Gesellschaft, 2020, v. 18, n. 3, p. 215, doi. 10.1111/ddg.14036
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- Publication type:
- Article
Prevalence of eight molecular markers associated with thrombotic diseases in six Amerindian tribes and two African groups of Costa Rica.
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- American Journal of Human Biology, 2004, v. 16, n. 1, p. 82, doi. 10.1002/ajhb.10229
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- Article
Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence.
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- 2020
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- Publication type:
- journal article
Treatment of patients with hereditary angioedema with the c.988A>G (p.Lys330Glu) variant in the plasminogen gene.
- Published in:
- 2020
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- Publication type:
- journal article
Common polymorphisms and cardiovascular factors in patients with myocardial infarction of Costa Rica.
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- Revista de Biología Tropical, 2006, v. 54, n. 1, p. 1
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- Article
Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data.
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- British Journal of Haematology, 2001, v. 112, n. 4, p. 1062, doi. 10.1046/j.1365-2141.2001.02671.x
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- Article
Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N‐terminal cleavage site of bradykinin.
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- Allergy, 2019, v. 74, n. 12, p. 2479, doi. 10.1111/all.13869
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- Article
The FXIIIVal34Leu, common and risk factors of venous thrombosis in early middle-age Costa Rican patients.
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- Cell Biochemistry & Function, 2007, v. 25, n. 6, p. 739, doi. 10.1002/cbf.1389
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- Article
Twenty two novel mutations of the factor VII gene in factor VII deficiency.
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- Human Mutation, 2000, v. 15, n. 6, p. 489, doi. 10.1002/1098-1004(200006)15:6<489::AID-HUMU1>3.0.CO;2-J
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- Article
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy.
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- Human Mutation, 1997, v. 9, n. 6, p. 526, doi. 10.1002/(SICI)1098-1004(1997)9:6<526::AID-HUMU5>3.0.CO;2-#
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- Article
Twenty-five novel mutations of the factor IX gene in haemophilia B.
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- Human Mutation, 1995, v. 6, n. 4, p. 346, doi. 10.1002/humu.1380060410
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- Publication type:
- Article
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with hunter syndrome (mucopolysaccharidosis II).
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- Human Mutation, 1994, v. 4, n. 2, p. 128, doi. 10.1002/humu.1380040206
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- Article
Haplotype analysis of classical and mild phenotype of phenylketonuria in the German Democratic Republic.
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- Clinical Genetics, 1988, v. 34, n. 3, p. 176, doi. 10.1111/j.1399-0004.1988.tb02859.x
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- Article