Found: 27
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Diagnostic yield in adults screened at the marfan outpatient clinic using the 1996 and 2010 ghent nosologies.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 982, doi. 10.1002/ajmg.a.35343
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- Publication type:
- Article
NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results.
- Published in:
- Scientific Reports, 2016, p. 38359, doi. 10.1038/srep38359
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- Publication type:
- Article
Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation.
- Published in:
- Cardiology, 2012, v. 123, n. 3, p. 181, doi. 10.1159/000342717
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- Publication type:
- Article
Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation.
- Published in:
- Cardiology, 2012, v. 123, n. 3, p. 181, doi. 10.1159/000342717
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- Publication type:
- Article
Possible Bradycardic Mode of Death and Successful Pacemaker Treatment in a Large Family with Features of Long QT Syndrome Type 3 and Brugada Syndrome.
- Published in:
- Journal of Cardiovascular Electrophysiology, 2001, v. 12, n. 6, p. 630, doi. 10.1046/j.1540-8167.2001.00630.x
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- Article
Primary care professionals' views on population-based expanded carrier screening: an online focus group study.
- Published in:
- Family Practice, 2024, v. 41, n. 4, p. 571, doi. 10.1093/fampra/cmad011
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- Publication type:
- Article
A group approach to genetic counselling of cardiomyopathy patients: satisfaction and psychological outcomes sufficient for further implementation.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1462, doi. 10.1038/ejhg.2015.10
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- Publication type:
- Article
Maximising the efficiency of clinical screening programmes: balancing predictive genetic testing with a right not to know.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1124, doi. 10.1038/ejhg.2014.269
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- Publication type:
- Article
Experiences, considerations and emotions relating to cardiogenetic evaluation in relatives of young sudden cardiac death victims.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 192, doi. 10.1038/ejhg.2013.126
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- Article
Obtaining insurance after DNA diagnostics: a survey among hypertrophic cardiomyopathy mutation carriers.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 251, doi. 10.1038/ejhg.2009.145
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- Publication type:
- Article
Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1201, doi. 10.1038/ejhg.2008.92
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- Publication type:
- Article
The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening.
- Published in:
- European Heart Journal, 2010, v. 31, n. 7, p. 842, doi. 10.1093/eurheartj/ehp539
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- Publication type:
- Article
Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?
- Published in:
- European Heart Journal, 2007, v. 28, n. 5, p. 575
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- Publication type:
- Article
Gender differences in the long QT syndrome: effects of β-adrenoceptor blockade
- Published in:
- Cardiovascular Research, 2002, v. 53, n. 3, p. 770, doi. 10.1016/S0008-6363(01)00477-1
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- Publication type:
- Article
The impact of national prenatal screening on the time of diagnosis and outcome of pregnancies affected with common trisomies, a cohort study in the Northern Netherlands.
- Published in:
- 2017
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- Publication type:
- journal article
Quality of Life in Young Adult Patients with a Cardiogenetic Condition Receiving an ICD for Primary Prevention of Sudden Cardiac Death.
- Published in:
- Pacing & Clinical Electrophysiology, 2015, v. 38, n. 7, p. 870, doi. 10.1111/pace.12649
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- Publication type:
- Article
A Case of Catecholaminergic Polymorphic Ventricular Tachycardia Caused by Two Calsequestrin 2 Mutations.
- Published in:
- Pacing & Clinical Electrophysiology, 2008, v. 31, n. 7, p. 916, doi. 10.1111/j.1540-8159.2008.01111.x
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- Publication type:
- Article
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
- Published in:
- 2013
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- Publication type:
- Journal Article
Views of patients and parents of children with genetic disorders on population-based expanded carrier screening.
- Published in:
- 2022
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- Publication type:
- journal article
Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 6, p. 762, doi. 10.1002/pd.6056
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- Publication type:
- Article
Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple-based approach and examination of couples' views.
- Published in:
- 2019
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- Publication type:
- journal article
Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part II-women's perspectives.
- Published in:
- 2016
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- Publication type:
- journal article
The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics
- Published in:
- European Heart Journal, 2015, v. 36, n. 22, p. 1367, doi. 10.1093/eurheartj/ehv122
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- Publication type:
- Article
Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.
- Published in:
- European Heart Journal, 2014, v. 35, n. 32, p. 2165, doi. 10.1093/eurheartj/ehu050
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- Publication type:
- Article
Cardiogenetic screening of first-degree relatives after sudden cardiac death in the young: a population-based approach.
- Published in:
- EP: Europace, 2011, v. 13, n. 5, p. 716, doi. 10.1093/europace/euq460
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- Publication type:
- Article
Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: systematic review of clinical risk markers.
- Published in:
- EP: Europace, 2010, v. 12, n. 3, p. 313, doi. 10.1093/europace/eup431
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- Publication type:
- Article
Actual Use of Medications Prescribed During Pregnancy: A Cross-Sectional Study Using Data from a Population-Based Congenital Anomaly Registry.
- Published in:
- 2015
- By:
- Publication type:
- journal article