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                             52 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 Access, uptake and communication of genetic test results in Australian families with long QT syndrome (LQTS) Burns, C.
 2014
 23 S2 p. e7-
1 p.
 artikel
2 Adjustment to a diagnosis of Homozygous Familial Hypercholesterolaemia and decision making regarding therapy in two unrelated families Freeman, L.
 2014
 23 S2 p. e9-e10
nvt p.
 artikel
3 A large-scale phenotype-to-genotype screen identifies regulators of cardiac development and function Smith, K.
 2014
 23 S2 p. e17-
1 p.
 artikel
4 Analysis of gene-gene interactions among common variants in coronary artery disease Musameh, M.
 2014
 23 S2 p. e19-
1 p.
 artikel
5 An audit of cardiac genetic testing costs in a regional genetics unit A, Ronan
 2014
 23 S2 p. e16-
1 p.
 artikel
6 A rare case of malignant Long QT syndrome due to a mutation in ANK2 (LQTS4) Taylor, J.
 2014
 23 S2 p. e17-
1 p.
 artikel
7 Cardiac genetic testing in South Australia 2008-2013 Mordaunt, D.
 2014
 23 S2 p. e4-
1 p.
 artikel
8 Cardiac health professionals’ attitudes towards genetic testing for hereditary causes of cardiovascular disease Burcher, S.
 2014
 23 S2 p. e6-e7
nvt p.
 artikel
9 Cardiovascular involvement in a large cohort of Argentinean Fabry patients. Correlation with cardiovascular risk factors Cabrera, G.
 2014
 23 S2 p. e7-
1 p.
 artikel
10 Cases of mitogenic cardiomyopathy in the United Kingdom Bueser, T.
 2014
 23 S2 p. e6-
1 p.
 artikel
11 Characterisation of potential splicing mutations in the LDLR gene and development of a functional pre-mRNA screening test Bickley, V.
 2014
 23 S2 p. e5-e6
nvt p.
 artikel
12 Clinical and genetic characteristics of hypertrophic cardiomyopathy patients with end-stage disease: A registry-based study Driscoll, E.
 2014
 23 S2 p. e8-e9
nvt p.
 artikel
13 Co-existence of left ventricular non-compaction and polycystic kidney disease - more than just a coincidence? Hanna, J.
 2014
 23 S2 p. e11-
1 p.
 artikel
14 Consanguinity genetics in a forensic setting Parsons, S.
 2014
 23 S2 p. e15-
1 p.
 artikel
15 Development of the New Zealand cardiac inherited disease registry Skinner, J.
 2014
 23 S2 p. e4-
1 p.
 artikel
16 Different types of cardiac remodelling and extra-cardiac complications caused by SCN5A mutations Zaklyazminskaya, E.
 2014
 23 S2 p. e20-
1 p.
 artikel
17 Dilated cardiomyopathy - three brothers and a BAG3 mutation Hunt, L.
 2014
 23 S2 p. e11-
1 p.
 artikel
18 Directing patients to reliable web-based information about genetic cardiac diseases: An example using the HONCode Marathe, J.
 2014
 23 S2 p. e12-e13
nvt p.
 artikel
19 ECG risk score: A powerful predictor of sudden death in hypertrophic cardiomyopathy - genotype correlates Ostman-Smith, I.
 2014
 23 S2 p. e14-e15
nvt p.
 artikel
20 Elevated Lipoprotein (a) level is more predictive of coronary atheroma burden than family history in intermediate and high risk- implications for screening algorithms Legget, M.
 2014
 23 S2 p. e3-e4
nvt p.
 artikel
21 Genetic testing for monogenic cardiac disorders in minors: Review of all minors referred to a cardiac genetics service over a 5 year period Wallis, M.
 2014
 23 S2 p. e19-
1 p.
 artikel
22 Health literacy, genetic literacy and outcomes in patients with genetic cardiac disease: A review of the literature Marathe, J.
 2014
 23 S2 p. e12-
1 p.
 artikel
23 Hypertrophic Cardiomyopathy with rare Arg442Cys mutation in MHY7 with marked phenotypic expression Hamilton-Craig, C.
 2014
 23 S2 p. e10-e11
nvt p.
 artikel
24 Identification of high risk long QT syndrome patients using mean Holter QTc Waddell-Smith, K.
 2014
 23 S2 p. e18-
1 p.
 artikel
25 Identifying the genetic cause of DCM in a zebrafish mutant Martin, I.
 2014
 23 S2 p. e2-
1 p.
 artikel
26 Illumina TruSight Cardiomyopathy Sequencing Panel: Application to hypertrophic cardiomyopathy Bagnall, R.
 2014
 23 S2 p. e5-
1 p.
 artikel
27 In-vivo characterisation and mutation screening of the cardiac two-pore potassium channel, TWIK-1 Martin, I.
 2014
 23 S2 p. e14-
1 p.
 artikel
28 Knowledge and perceptions of genetic cardiac disease amongst general practitioners: The Tasmanian experience Marathe, J.
 2014
 23 S2 p. e13-
1 p.
 artikel
29 Late diagnosis of Fabry disease in middle-aged men with left ventricular hypertrophy and heart failure Chan, W.
 2014
 23 S2 p. e7-e8
nvt p.
 artikel
30 Long QT gene testing in autopsy-negative sudden death in the young: Influence of age and gender on diagnostic yield Marcondes, L.
 2014
 23 S2 p. e13-e14
nvt p.
 artikel
31 Long term enzyme replacement therapy for Fabry disease: Effectiveness on heart, kidney and brain Cabrera, G.
 2014
 23 S2 p. e2-e3
nvt p.
 artikel
32 Molecular autopsy for sudden cardiac death - outcome of a practical approach Dean, J.
 2014
 23 S2 p. e3-
1 p.
 artikel
33 Mutation spectrum in PKP2 and DSG2 genes in Russian patients with arrhythmogenic right ventricular cardiomyopathy Shestak, A.
 2014
 23 S2 p. e16-e17
nvt p.
 artikel
34 myProbesTM powered by cytocell-development of Fast FISH 22q11.2 gene deletion testing for paediatric cardiac patients Gough, K.
 2014
 23 S2 p. e10-
1 p.
 artikel
35 Oligonucleotide-selective sequencing for genetic diagnostics of pulmonary arterial hypertension Koskenvuo, J.
 2014
 23 S2 p. e5-
1 p.
 artikel
36 Queensland Cardiac Genetics Clinic Hunt, L.
 2014
 23 S2 p. e1-
1 p.
 artikel
37 Risk of sudden cardiac death following acute coronary syndromes: Interplay of single nucleotide polymorphisms and the presence of heart failure Earle, N.
 2014
 23 S2 p. e9-
1 p.
 artikel
38 Role of the specialist nurse in the cardiac genetics clinic Thompson, T.
 2014
 23 S2 p. e17-e18
nvt p.
 artikel
39 Sixteen years experience of genetic counselling in channelopathies in Russia Zaklyazminskaya, E.
 2014
 23 S2 p. e19-e20
nvt p.
 artikel
40 Targeted next generation sequencing identifies likely-pathogenic variants in families with strong histories of CHD Blue, G.
 2014
 23 S2 p. e1-
1 p.
 artikel
41 Targeted oligonucleotide-selective sequencing of 101 genes from 150 patients with idiopathic dilated cardiomyopathy in Finland Alastalo, T.
 2014
 23 S2 p. e2-
1 p.
 artikel
42 The coroner can help - a case report highlighting the importance of genetic referral following the autopsy diagnosis of premature coronary artery disease Poplawski, N.
 2014
 23 S2 p. e15-
1 p.
 artikel
43 The genetic post mortem: Issues and successes in a regional genetics unit Ronan, A.
 2014
 23 S2 p. e16-
1 p.
 artikel
44 The inpatient cardiology visit: Missing the opportunity to detect inherited heart conditions Waddell-Smith, K.
 2014
 23 S2 p. e18-e19
nvt p.
 artikel
45 The prevalence of emerging genotypic risk factors in patients with long QT syndrome Earle, N.
 2014
 23 S2 p. e9-
1 p.
 artikel
46 The RPAH experience of improving resources for informing and evaluating cascade screening in Familial Hypercholesterolaemia Molloy, L.
 2014
 23 S2 p. e14-
1 p.
 artikel
47 The ‘virtual’ genetic heart disease clinic - a model for emerging services Ronan, A.
 2014
 23 S2 p. e15-e16
nvt p.
 artikel
48 Timothy syndrome type 2 associated CACNA1C G402S mutation in a teenage girl with idiopathic ventricular fibrillation Tallila, J.
 2014
 23 S2 p. e4-e5
nvt p.
 artikel
49 Title 2014
 23 S2 p. i-
1 p.
 artikel
50 Truncating Titin mutations: Are they a primary cause of dilated cardiomyopathy or a susceptibility factor? Johnson, R.
 2014
 23 S2 p. e11-e12
nvt p.
 artikel
51 Use of a murine Advanced Intercross Line combined with whole genome sequencing and transcriptome analysis confirms previously discovered QTL and identifies candidate genetic loci for cardiac atrial septal morphology Kirk, E.
 2014
 23 S2 p. e12-
1 p.
 artikel
52 Variants of unknown significance: Adding trauma to trauma. A case study of sudden unexplained death in a child Cunningham, F.
 2014
 23 S2 p. e8-
1 p.
 artikel
                             52 gevonden resultaten
 
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