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PLoS ONE, ISSN 1932-6203, 09/2017, Volume 12, Issue 9, pp. e0183772 - e0183772
Background GWAS discoveries on the X-chromosome are underrepresented in the literature primarily because the analytical tools that have been applied were... 
CAUSE CRANIOFRONTONASAL SYNDROME | LIP | GENE | MULTIDISCIPLINARY SCIENCES | FAMILY-BASED DESIGNS | WALKER-WARBURG-SYNDROME | CPX CRITICAL REGION | GENOME-WIDE | OCULOFACIOCARDIODENTAL SYNDROME | MUTATIONS | PALATE | European Continental Ancestry Group - genetics | Chromosomes, Human, X - genetics | Ephrin-B1 - genetics | X Chromosome Inactivation - genetics | Cytoskeletal Proteins - genetics | Humans | Asian Continental Ancestry Group - genetics | Male | Cleft Palate - genetics | T-Box Domain Proteins - genetics | Haplotypes - genetics | Cleft Lip - genetics | Dystrophin - genetics | Genetic Markers - genetics | Polymorphism, Single Nucleotide - genetics | Female | Genome-Wide Association Study - methods | Ubiquitin-Protein Ligases - genetics | Genotype | Genome-wide association studies | Dimorphism (Biology) | Research | Analysis | X chromosome | Haplotypes | Identification methods | Genomics | Sex | Genomes | Single-nucleotide polymorphism | Parameterization | Males | Inactivation | Confidence intervals | Mathematical models | Bioinformatics | Genotypes | Public health | Statistical analysis | Deactivation | Computer simulation | Markers | Gene expression | Orofacial clefts | Minority & ethnic groups | Primary care | Cleft lip/palate | Statistical models | Genetic research | Mutation | Females | Methods | Index Medicus
Journal Article
Forensic Science International, ISSN 0379-0738, 12/2018, Volume 293, pp. 70 - 76
Cases of sudden cardiac death (SCD) in young and apparently healthy individuals represent a devastating event in affected families. Hereditary arrhythmia... 
Genetics | Massive parallel sequencing | Sudden cardiac death | Arrhythmia syndromes | Sudden death | BRUGADA SYNDROME | VARIANTS | MEDICINE, LEGAL | UNEXPLAINED DEATH | EUROPEAN-SOCIETY | HYPERTROPHIC CARDIOMYOPATHY | RECOMMENDATIONS | MOLECULAR AUTOPSY | CARDIAC DEATH | EPIDEMIOLOGY | CHANNELOPATHIES | Cardiac Myosins - genetics | Humans | Connectin - genetics | Myosin Heavy Chains - genetics | Infant | Male | Death, Sudden, Cardiac - etiology | Sequence Analysis, DNA | Genetic Variation | Young Adult | Cardiomyopathies - genetics | Channelopathies - genetics | Calcium Channels, L-Type - genetics | Dystrophin - genetics | Hypertrophy, Left Ventricular - pathology | Ankyrins - genetics | Forensic Genetics | Adult | Female | High-Throughput Nucleotide Sequencing | alpha Catenin - genetics | Microfilament Proteins - genetics | Arrhythmia | Demographic aspects | Cardiac arrest | Causes of | Youth | Genetic aspects | Teenagers | Health aspects | Death of | Heart | Cardiac arrhythmia | Cardiomyopathy | Epilepsy | Genes | Cardiovascular disease | Family medical history | Genetic screening | Gene sequencing | Analgesics | Autopsy | Genetic analysis | Stratification | Deoxyribonucleic acid--DNA | Genetic disorders | Forensic science | Legal medicine | Mortality | Preventive medicine | Disease prevention | Studies | Pathology | Sleep | Genetic counseling | Death | Index Medicus
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 2009, Volume 30, Issue 6, pp. 934 - 945
Journal Article
Molecular Therapy, ISSN 1525-0016, 02/2012, Volume 20, Issue 2, pp. 443 - 455
Journal Article
Nature Genetics, ISSN 1061-4036, 02/2008, Volume 40, Issue 2, pp. 181 - 188
Journal Article
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 05/2010, Volume 6, Issue 5, pp. 12 - e1000958
Journal Article