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Nederlands Tijdschrift voor Dermatologie en Venereologie, ISSN 0925-8604, 09/2015, Volume 25, Issue 2, pp. 70 - 76
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 7, pp. 793 - 796
Journal Article
Arteriosclerosis, Thrombosis and Vascular Biology, ISSN 1079-5642, 2013, Volume 33, Issue 7, p. 1538
OBJECTIVE: Platelet adhesion to subendothelial collagen is dependent on the integrin α2β1 and glycoprotein VI (GPVI) receptors. The major signaling routes in... 
Journal Article
Genetics in Medicine, ISSN 1098-3600, 09/2016, Volume 18, Issue 9, p. 949
PURPOSE: This study investigated whole-exome sequencing (WES) yield in a subset of intellectually disabled patients referred to our clinical diagnostic center... 
Journal Article
Netherlands Heart Journal, ISSN 1568-5888, 07/2015, Volume 23, Issue 7-8, pp. 356 - 362
Genetics plays an important role in the pathophysiology of cardiovascular diseases, and is increasingly being integrated into clinical practice. Since 2008,... 
Medicine & Public Health | Cardiomyopathy | Genetics | Medical Education | Review | Cardiology | Dilated | CARDIAC & CARDIOVASCULAR SYSTEMS | SUDDEN-DEATH | RISK | MECHANISMS | ARRHYTHMOGENIC CARDIOMYOPATHY | HEART | CHROMOSOME | DISEASE | GENERATION | MUTATIONS | INHERITANCE
Journal Article
Clinical Genetics, ISSN 0009-9163, 04/2014, Volume 85, Issue 4, p. 381
Mutations in the [alpha]B-crystallin gene (CRYAB) have been reported in desmin-related myopathies, with or without cardiac involvement. Mutations in this gene... 
Family | Cataract | Genetic aspects | Genetic disorders | Cardiomyopathy | Heart diseases | Cataracts | Families & family life | Congenital diseases | Mutation | Genes
Journal Article
Nederlands Tijdschrift voor Dermatologie en Venereologie, ISSN 0925-8604, 05/2009, Volume 19, Issue 5, pp. 253 - 255
Journal Article
BJOG: An International Journal of Obstetrics & Gynaecology, ISSN 1470-0328, 06/2006, Volume 113, Issue 6, pp. 725 - 728
Journal Article
Molecular Syndromology, ISSN 1661-8769, 01/2013, Volume 3, Issue 6, pp. 274 - 283
In a 24-year-old man with mild intellectual disability, congenital heart defects and obesity, we identified up to 4 small supernumerary marker chromosomes... 
Original Article | FAM123B | ARHGEF9 | Congenital heart defect | Multiple supernumerary marker chromosomes | Intellectual disability | Mosaicism | Secundum-type atrial septal defect | Original
Journal Article
2011, 1st Edition., ISBN 9781849964708, 453
Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a... 
Cardiovascular system | Pre-clinical Medicine: Basic Sciences | Cardiovascular system - Diseases - Genetic aspects | Human Genetics | Internal Medicine | Medicine & Public Health | Cardiology
eBook
European Journal of Human Genetics, ISSN 1018-4813, 2011, Volume 19, Issue 4, pp. 389 - 393
Down's syndrome (DS), resulting from an additional copy of chromosome 21 (trisomy 21), is frequently associated with congenital heart defects (CHDs). Although... 
Journal Article
Arteriosclerosis, Thrombosis, and Vascular Biology, ISSN 1079-5642, 2013, Volume 33, Issue 7, pp. 1538 - 1543
Journal Article
Netherlands heart journal, ISSN 1568-5888, 2010, Volume 18, Issue 3, pp. 144 - +
DUTCH PROFESSIONAL GROUPS INVOLVED IN DRAWING UP THIS GUIDELINE: cardiologists, paediatric cardiologists, clinical geneticists, clinical molecular geneticists,... 
Multidisciplinary Guideline
Journal Article
Circulation, ISSN 0009-7322, 2009, Volume 119, Issue 24, pp. 3062 - 3069
BACKGROUND: Serious congenital heart defects occur as a result of improper atrioventricular septum (AVS) development during embryogenesis. Despite extensive... 
Journal Article
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