Found: 9
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A comprehensive evaluation of myocardial fibrosis in hypertrophic cardiomyopathy with cardiacmagnetic resonance imaging: linking genotype with fibrotic phenotype.
- Published in:
- European Heart Journal - Cardiovascular Imaging, 2014, v. 15, n. 10, p. 1108, doi. 10.1093/ehjci/jeu077
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- Publication type:
- Article
Population screening and cascade testing for carriers of SMA.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 759, doi. 10.1038/sj.ejhg.5201821
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- Publication type:
- Article
Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia.
- Published in:
- Genes, 2016, v. 7, n. 9, p. 68, doi. 10.3390/genes7090068
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- Publication type:
- Article
GENETIC DISORDERS IN GASTROENTEROLOGY AND HEPATOLOGY APC gene and familial adenomatous polyposis.
- Published in:
- 2004
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- Publication type:
- Other
Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC).
- Published in:
- Human Mutation, 2006, v. 27, n. 4, p. 388, doi. 10.1002/humu.9417
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- Publication type:
- Article
Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization.
- Published in:
- Human Mutation, 2004, v. 24, n. 3, p. 261, doi. 10.1002/humu.20078
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- Publication type:
- Article
Dysfunction of axonal membrane conductances in adolescents and young adults with spinal muscular atrophy.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Dysfunction of axonal membrane conductances in adolescents and young adults with spinal muscular atrophy.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 11, p. 3185, doi. 10.1093/brain/awr229
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- Publication type:
- Article
<italic>ADGRV1</italic> is implicated in myoclonic epilepsy.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 2, p. 381, doi. 10.1111/epi.13980
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- Publication type:
- Article