Found: 16
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Biventricular and atrial diastolic function assessment using conventional echocardiography and tissue-Doppler imaging in adults with Marfan syndrome†.
- Published in:
- European Journal of Echocardiography, 2009, v. 10, n. 8, p. 947, doi. 10.1093/ejechocard/jep110
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- Article
Impaired right ventricular systolic function demonstrated by reduced atrioventricular plane displacement in adults with Marfan syndrome.
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- European Journal of Echocardiography, 2009, v. 10, n. 2, p. 295
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- Article
Early impairment of left ventricular long-axis systolic function demonstrated by reduced atrioventricular plane displacement in patients with Marfan syndrome†.
- Published in:
- European Journal of Echocardiography, 2008, v. 9, n. 5, p. 605, doi. 10.1093/ejechocard/jen003
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- Article
Genetic testing in Marfan syndrome.
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- British Journal of Hospital Medicine (17508460), 2016, v. 77, n. 1, p. 38, doi. 10.12968/hmed.2016.77.1.38
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- Article
Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 238, doi. 10.1007/s00439-005-1275-2
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- Article
Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma.
- Published in:
- Human Genetics, 2002, v. 110, n. 5, p. 513, doi. 10.1007/s00439-002-0711-9
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- Article
A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.
- Published in:
- Human Genetics, 2002, v. 110, n. 1, p. 52, doi. 10.1007/s00439-001-0645-7
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- Article
Cardiovascular manifestations in men and women carrying a FBN1 mutation.
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- European Heart Journal, 2010, v. 31, n. 18, p. 2223
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- Article
Cause of Primary Congenital Lymphedema.
- Published in:
- Angiology, 1999, v. 50, n. 4, p. 325, doi. 10.1177/000331979905000408
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- Article
The role of advanced echocardiography and cardiovascular magnetic resonance in the assessment of myocardial function in Marfan syndrome-An update.
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- Echocardiography, 2017, v. 34, n. 5, p. 760, doi. 10.1111/echo.13517
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- Article
Assessment of Aortic Stiffness in Marfan Syndrome Using Two-Dimensional and Doppler Echocardiography.
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- Echocardiography, 2011, v. 28, n. 1, p. 29, doi. 10.1111/j.1540-8175.2010.01241.x
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- Article
Assessment of Carotid Compliance Using Real Time Vascular Ultrasound Image Analysis in Marfan Syndrome.
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- Echocardiography, 2009, v. 26, n. 4, p. 441, doi. 10.1111/j.1540-8175.2008.00813.x
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- Article
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. E1622, doi. 10.1002/humu.21305
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- Article
Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.
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- Human Mutation, 2001, v. 18, n. 6, p. 546, doi. 10.1002/humu.1235
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- Article
Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.
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- Human Mutation, 2001, v. 18, n. 3, p. 251, doi. 10.1002/humu.1181
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- Publication type:
- Article
The identification of five novel mutations in the lysosomal acid a-(1,4) glucosidase gene from patients with glycogen storage disease type II.
- Published in:
- Human Mutation, 1998, v. 11, n. 5, p. 413, doi. 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU16>3.0.CO;2-I
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- Article