Found: 16
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The genetic basis of apparently idiopathic ventricular fibrillation: a retrospective overview.
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- EP: Europace, 2023, v. 25, n. 11, p. 1, doi. 10.1093/europace/euad336
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- Article
The Maastricht Acquisition Platform for Studying Mechanisms of Cell–Matrix Crosstalk (MAPEX): An Interdisciplinary and Systems Approach towards Understanding Thoracic Aortic Disease.
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- Biomedicines, 2023, v. 11, n. 8, p. 2095, doi. 10.3390/biomedicines11082095
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- Article
All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience.
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- Prenatal Diagnosis, 2023, v. 43, n. 4, p. 527, doi. 10.1002/pd.6314
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- Article
Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 479, doi. 10.1002/ajmg.a.63047
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- Article
Improving diagnosis and risk stratification across the ejection fraction spectrum: the Maastricht Cardiomyopathy registry.
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- ESC Heart Failure, 2022, v. 9, n. 2, p. 1463, doi. 10.1002/ehf2.13833
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- Article
A global longitudinal strain cut-off value to predict adverse outcomes in individuals with a normal ejection fraction.
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- ESC Heart Failure, 2021, v. 8, n. 5, p. 4343, doi. 10.1002/ehf2.13465
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- Article
Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences.
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- European Heart Journal, 2021, v. 42, n. 2, p. 162, doi. 10.1093/eurheartj/ehaa841
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- Article
Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 2, p. N.PAG, doi. 10.1002/mgg3.1049
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- Article
Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
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- Human Mutation, 2018, v. 39, n. 9, p. 1173, doi. 10.1002/humu.23565
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- Article
Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.
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- European Heart Journal, 2016, v. 37, n. 23, p. 1815, doi. 10.1093/eurheartj/ehv522
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- Article
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
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- Nature Genetics, 2012, v. 44, n. 4, p. 435, doi. 10.1038/ng.1083
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- Article
The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts.
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- Human Genetics, 2008, v. 124, n. 5, p. 525, doi. 10.1007/s00439-008-0569-6
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- Article
The I105V polymorphism in glutathione S-transferase P1, parental smoking and the risk for nonsyndromic cleft lip with or without cleft palate.
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- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 358, doi. 10.1038/sj.ejhg.5201973
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- Article
Nutrition and Genes in the Development of Orofacial Clefting.
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- Nutrition Reviews, 2006, v. 64, n. 6, p. 280, doi. 10.1111/j.1753-4887.2006.tb00211.x
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- Article
Myo-inositol, glucose and zinc status as risk factors for non-syndromic cleft lip with or without cleft palate in offspring: a case–control study.
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- BJOG: An International Journal of Obstetrics & Gynaecology, 2004, v. 111, n. 7, p. 661, doi. 10.1111/j.1471-0528.2004.00171.x
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- Article
Maternal dietary B vitamin intake, other than folate, and the association with orofacial cleft in the offspring.
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- European Journal of Nutrition, 2004, v. 43, n. 1, p. 7, doi. 10.1007/s00394-004-0433-y
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- Article