Found: 12
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Immunological abnormalities associated with hereditary haemorrhagic telangiectasia.
- Published in:
- Journal of Internal Medicine, 2013, v. 274, n. 4, p. 351, doi. 10.1111/joim.12098
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- Publication type:
- Article
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 13, p. 1318, doi. 10.1002/pd.4008
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- Publication type:
- Article
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 4, p. 308, doi. 10.1038/sj.ejhg.5200190
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- Publication type:
- Article
First prenatal diagnosis of partial trisomy 10 and partial monosomy 15 derived from a maternal translocation (10;15)(q11;q13).
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 6, p. 487, doi. 10.1002/pd.343
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- Publication type:
- Article
Duplication of chromosome 11 centromere in fetal and maternal karyotypes: a new variant?
- Published in:
- 1991
- By:
- Publication type:
- journal article
Effect of Celiprolol on Prevention of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome
- Published in:
- 2009
- By:
- Publication type:
- Abstract
Geometric and elastic properties of the common carotid artery in vascular Ehlers-Danlos Syndrome patients with identified COL3A1 mutations
- Published in:
- 2008
- By:
- Publication type:
- Abstract
The new Ghent criteria for Marfan syndrome: what do they change?
- Published in:
- Clinical Genetics, 2012, v. 81, n. 5, p. 433, doi. 10.1111/j.1399-0004.2011.01703.x
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- Publication type:
- Article
Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?
- Published in:
- Clinical Genetics, 2001, v. 60, n. 2, p. 125, doi. 10.1034/j.1399-0004.2001.600206.x
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- Publication type:
- Article
Bronchiectasis in two pediatric patients with Rothmund-Thomson syndrome.
- Published in:
- 2007
- By:
- Publication type:
- Journal Article
A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 5, p. 945
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- Publication type:
- Article
Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia.
- Published in:
- 2004
- By:
- Publication type:
- Journal Article