Found: 11
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Glomuvenous malformations with smooth muscle and eccrine glands: unusual histopathologic features in a familial setting.
- Published in:
- Journal of Cutaneous Pathology, 2014, v. 41, n. 3, p. 308, doi. 10.1111/cup.12283
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- Publication type:
- Article
Atrial amyloid deposits in the failing human heart display both atrial and brain natriuretic peptide-like immunoreactivity.
- Published in:
- Journal of Pathology, 1991, v. 165, n. 3, p. 235, doi. 10.1002/path.1711650307
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- Publication type:
- Article
A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations.
- Published in:
- Experimental Dermatology, 2011, v. 20, n. 12, p. 1032, doi. 10.1111/j.1600-0625.2011.01387.x
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- Publication type:
- Article
Mitochondrial DNA Variant Discovery and Evaluation in Human Cardiomyopathies through Next-Generation Sequencing.
- Published in:
- PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012295
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- Publication type:
- Article
Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations.
- Published in:
- International Journal of Dermatology, 2014, v. 53, n. 11, p. 1362, doi. 10.1111/ijd.12588
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- Publication type:
- Article
Incomplete penetrance of GLMN gene c.395–1G>C mutation in a family with glomuvenous malformations.
- Published in:
- International Journal of Dermatology, 2014, v. 53, n. 6, p. 1, doi. 10.1111/ijd.12588
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- Publication type:
- Article
Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 200, doi. 10.1038/ejhg.2010.169
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- Publication type:
- Article
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 1, p. 34, doi. 10.1038/sj.ejhg.5201502
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- Publication type:
- Article
The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA<sup>Leu(CUN)</sup> and is associated with dilated cardiomyopathy.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 4, p. 311, doi. 10.1038/sj.ejhg.5200622
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- Publication type:
- Article
A novel AβPP mutation exclusively associated with cerebral amyloid angiopathy.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 4, p. 639
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- Publication type:
- Article
A combined histologic and molecular approach identifies three groups of gastric cancer with different prognosis.
- Published in:
- 2009
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- Publication type:
- journal article