Found: 11
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Evidence Supporting Tight Linkage of X-Linked Emery-Dreifuss Muscular Dystrophy to the Factor VIII: C Gene.
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- Human Heredity, 1991, v. 41, n. 6, p. 364, doi. 10.1159/000154028
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- Article
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
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- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1002, doi. 10.1038/ejhg.2013.258
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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
Factor V Leiden, Prothrombin Gene G20210A Variant, and Methylenetetrahydrofolate Reductase C677T Genotype in Young Adults With Ischemic Stroke.
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- Clinical & Applied Thrombosis/Hemostasis, 2001, v. 7, n. 4, p. 346, doi. 10.1177/107602960100700418
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- Article
Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformations.
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- Neurosurgical Review, 2014, v. 37, n. 1, p. 161, doi. 10.1007/s10143-013-0478-6
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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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- 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
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
Molecular diagnosis of hemophilia A and B. Report of five families from Costa Rica.
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- Revista de Biología Tropical, 2004, v. 52, n. 3, p. 521
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- Article
A de novo translocation 46,X,t(X;15) causing haemophilia B in a girl: a case report.
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- British Journal of Haematology, 1998, v. 100, n. 4, p. 750, doi. 10.1046/j.1365-2141.1998.00621.x
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- 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