Refine
Year of publication
- 2019 (81) (remove)
Document Type
- Article (30)
- Conference Proceeding (20)
- Bachelor Thesis (10)
- Report (6)
- Part of a Book (4)
- Master's Thesis (4)
- Course Material (2)
- Book (1)
- Doctoral Thesis (1)
- Periodical Part (1)
Has Fulltext
- yes (81)
Is part of the Bibliography
- no (81)
Keywords
- Programmierung (4)
- Wissenschaftliche Bibliothek (4)
- Computerunterstütztes Lernen (3)
- Digitalisierung (3)
- E-Learning (3)
- Epidemiologie (3)
- HIV (3)
- ProFormA (3)
- Student (3)
- XML (3)
- Autobewerter (2)
- Automation (2)
- Befragung (2)
- Beratung (2)
- Beruf (2)
- Bewertungsschema (2)
- Computerlinguistik (2)
- Computersicherheit (2)
- Contract Analysis (2)
- Diakonie (2)
- E-Assessment (2)
- Elektromagnetische Verträglichkeit (2)
- Eltern (2)
- Epidemiology (2)
- Ethik (2)
- Gemeinwesenarbeit (2)
- Incidence (2)
- Informationstechnik (2)
- Inzidenz <Medizin> (2)
- Karachi (2)
- Karatschi (2)
- Kind (2)
- Kirche (2)
- Klassifikation (2)
- Knowledge (2)
- Krankenhaus (2)
- Lernaufgabe (2)
- Microservices (2)
- Mikroservice (2)
- Open Access (2)
- PROFIBUS (2)
- Pakistan (2)
- Potentialausgleich (2)
- Prevalence (2)
- Softwaretest (2)
- University students (2)
- Wissen (2)
- electromagnetic compatibility (2)
- equipotential bonding (2)
- Öffentliche Bibliothek (2)
- Übung <Hochschule> (2)
- API (1)
- AR-Browser (1)
- Absolvent (1)
- Administrative data (1)
- Adsorption (1)
- Aerobes Training (1)
- Aerobic exercise (1)
- Agilität (1)
- Agilität <Management> (1)
- Aids (1)
- Akkumulator (1)
- Android (1)
- Anonymization (1)
- Antibiotic (1)
- Antibiotic resistance (1)
- Antibiotikum (1)
- Antwort-Wahl-Verfahren (1)
- Application Programming Interface (1)
- Arbeitsbedingungen (1)
- Arbeitsmarkt (1)
- Arbeitswelt (1)
- Arbeitszufriedenheit (1)
- Armut (1)
- Arzneimittelresistenz (1)
- Asymmetric encryption (1)
- Attitude (1)
- Augmented Reality (1)
- Automatisierte Bewertung (1)
- Autorität (1)
- B-streptococci (1)
- Bachelorarbeit (1)
- Benutzererlebnis (1)
- Benutzeroberfläche (1)
- Berufsbild (1)
- Bestandsaufbau (1)
- Big Data (1)
- Big Data Analytics (1)
- Bildmaterial (1)
- Biofilm (1)
- Biogas (1)
- Bioverbundwerkstoff (1)
- Bubke, Karolin (1)
- CD4+ cell count (1)
- CEP (1)
- COBIT (1)
- COPD (1)
- CSR-Kommunikation (1)
- Case Management (1)
- Case finding (1)
- Child abuse (1)
- Child abuse potential (1)
- Chronic obstructive pulmonary disease (1)
- Claims data (1)
- Claims data analysis (1)
- Clean Architecture (1)
- Cloud Computing (1)
- Code (1)
- Codierung (1)
- Coding (1)
- Complex Event Processing (1)
- Computational Thinking (1)
- Computersimulation (1)
- Concreteness (1)
- Consistency (1)
- Content-Gestaltung (1)
- Corporate Social Responsibility (1)
- Cyber-Security (1)
- Dairy cow (1)
- Data Management (1)
- Data Model (1)
- Data Sharing (1)
- Data-Warehouse-Konzept (1)
- Datenanalyse (1)
- Datenmodell (1)
- Decision Support (1)
- Deutscher Bibliothekartag (108. : 2019 : Leipzig) (1)
- Deutschland (1)
- Diagnose (1)
- Diagnosis (1)
- Digitale Bibliothek (1)
- Distributional Semantics (1)
- Dunkle Triade (1)
- EAssessment (1)
- EEG (1)
- EMC (1)
- EMC-compliant installation of automation networks (1)
- EMV (1)
- EN 15534-1 (1)
- EPN (1)
- Echtzeitverarbeitung (1)
- Education (1)
- Ehrenamt (1)
- Einstellung (1)
- Elektronische Bibliothek (1)
- Elternwerdung (1)
- Energieeffizienz (1)
- Entscheidungsunterstützung (1)
- Epidemiologic methods (1)
- Erneuerbare Energien (1)
- Erneuerbare-Energien-Gesetz (2000) (1)
- Erweiterte Realität <Informatik> (1)
- Euterentzündung (1)
- Event Processing Network (1)
- Event Processing Network Model (1)
- Evolutionärer Algorithmus (1)
- Experiment (1)
- Expert consensus (1)
- Fachinformationsdienst (1)
- Fachsprache (1)
- Familienberatung (1)
- Fassung (1)
- Feeding management (1)
- Feldgeräte (1)
- Focus Group (1)
- Formulierung (1)
- Forschungsdaten (1)
- Forschungsinformationen (1)
- Frage (1)
- Fragebogen (1)
- Frühe Kindheit (1)
- Führung (1)
- Fütterung (1)
- Gehorsam (1)
- Geistesgeschichte (1)
- Generierung (1)
- Genetic Programming (1)
- Genetik (1)
- Genetische Programmierung (1)
- German (1)
- Germanistik (1)
- Germany (1)
- Geschlechtsunterschied (1)
- Gesellschaft (1)
- Gesundheitswesen (1)
- Grader (1)
- Graft Rejection (1)
- Greedy-Algorithmus (1)
- Green Tourism (1)
- Gruppeninterview (1)
- Guideline (1)
- Hadoop (1)
- Hannover (1)
- Health Information Interoperability (1)
- Health care utilization (1)
- Health management (1)
- Herzmuskelkrankheit (1)
- Hochschule (1)
- Hospital (1)
- Housing (1)
- Huntington's disease (1)
- Huntington-Chorea (1)
- Hybridwerkstoff (1)
- Hygiene (1)
- ICD (1)
- ICD code (1)
- ISO 27000 (1)
- IT Klassifikation (1)
- IT Risk (1)
- IT Risk Management (1)
- IT Security Risk (1)
- Identität (1)
- Imagery (1)
- Images (1)
- Informatikunterricht (1)
- Information Extraction (1)
- Information Retrieval (1)
- Information Visualization (1)
- Insurance Industry (1)
- Integriertes Engineering (1)
- Java <Programmiersprache> (1)
- Jesuiten (1)
- Jesuits (1)
- Katholische Kirche (1)
- Kidney (1)
- Kinderheilkunde (1)
- Kindesmisshandlung (1)
- Klassifizierung (1)
- Kleinkind (1)
- Kommission für Fachreferatsarbeit (1)
- Kommunikation (1)
- Kommunikationsmanagement (1)
- Kompetenz (1)
- Konferenz (1)
- Konkretum <Linguistik> (1)
- Kontraproduktivität (1)
- Konverter (1)
- Kooperation (1)
- Korruption (1)
- Krafttraining (1)
- Körperfett (1)
- LOINC (1)
- LON-CAPA (1)
- Latent Semantic Analysis (1)
- Leadership (1)
- Lebensberatung (1)
- Lebensmittelbranche (1)
- Lebensqualität (1)
- Leber (1)
- Lehre (1)
- Lemmatization (1)
- Lernende Bibliothek (1)
- Lernende Organisation (1)
- Lernsoftware (1)
- Lexical Semantics (1)
- Literaturauswertung (1)
- Literature Review (1)
- Literaturrecherche (1)
- Logische Programmierung (1)
- Lymphknoten (1)
- Machiavellismus (1)
- Magnetometer (1)
- MapReduce (1)
- Marketing (1)
- Marketingstrategie (1)
- Markov Models (1)
- Maschinelles Lernen (1)
- Measurement (1)
- Mechanische Eigenschaft (1)
- Medical Coding (1)
- Medizin (1)
- Medizinische Bibliothek (1)
- Messinstrument (1)
- Milchkuh (1)
- Milchsäurebakterien (1)
- Moodle (1)
- Moodle-STACK (1)
- Mumbai (1)
- Mundhöhlenkrebs (1)
- NLU (1)
- Nachhaltigkeit (1)
- Narzissmus (1)
- Naturfaser (1)
- Network Security (1)
- Norddeutschland (1)
- Nutztierhaltung (1)
- OT-Security (1)
- Obstruktive Ventilationsstörung (1)
- Occupational safety climate (1)
- Open Data (1)
- Open Repositories (1)
- Open Science (1)
- OpenStack (1)
- Oral cancer (1)
- Organisatorisches Lernen (1)
- PCR (1)
- PDF <Dateiformat> (1)
- POS Tagging (1)
- PageRank (1)
- Paraphrase (1)
- Paraphrase Similarity (1)
- Parent-child relationship (1)
- Patient identification (1)
- Patient safety climate (1)
- Pedelec (1)
- Personennahverkehr (1)
- Pflegewissenschaft (1)
- Politiker (1)
- Postmenopause (1)
- Potenzial (1)
- Pregel (1)
- Privacy by Design (1)
- Professional practice (1)
- Profinet (1)
- Programmieraufgabe (1)
- Programmieraufgaben (1)
- Programmieren (1)
- Programmierplattform (1)
- Prolog (1)
- Prostatakrebs (1)
- Prämenopause (1)
- Pseudonymization (1)
- Psychometrics (1)
- Psychometrie (1)
- Psychopathie (1)
- Publikationswesen (1)
- Quality Control (1)
- Quality of Life (1)
- Qualitätskontrolle (1)
- REST <Informatik> (1)
- RESTful (1)
- Rauchen (1)
- Rechnernetz (1)
- Recommendation (1)
- Regelenergie (1)
- Replizierbarkeit (1)
- Repository <Informatik> (1)
- Representational State Transfer (1)
- Reproduzierbarkeit (1)
- Research practice (1)
- Reserveleistung (1)
- Resistance exercise (1)
- Retrodigitalisierung (1)
- Richardson Maturity Model (1)
- Richtlinie (1)
- Routine data (1)
- RuleCore (1)
- SLIDE (1)
- SPION (1)
- Schwarmintelligenz (1)
- Secondary data (1)
- Sentinel-Lymphknoten (1)
- Servicegrad (1)
- Shortest Path (1)
- Sicherheitsklima (1)
- Similarity Measures (1)
- Simulation (1)
- Skala (1)
- Smoking (1)
- Social Media (1)
- Sozialarbeit (1)
- Soziale Gerechtigkeit (1)
- Sozialraum (1)
- Speech and Logic IDE (1)
- Spektroskopie (1)
- Spezialbibliothek (1)
- Staphylococcaceae (1)
- Steuerung (1)
- Steuerungssystem (1)
- Stickstoffmonoxid (1)
- Structural Analysis (1)
- Studienerfolg (1)
- Supervision (1)
- Sustainability (1)
- Sustainable Tourism (1)
- Swarm Intelligence (1)
- Systematic review (1)
- Systemdienstleistungen (1)
- Systemische Familientherapie (1)
- Systemische Theorie (1)
- TNNI3 (1)
- Tabakkonsum (1)
- Terminologie (1)
- Terminology (1)
- Text Mining (1)
- Text Similarity (1)
- Therapieerfolg (1)
- Tiergesundheit (1)
- Title Matching (1)
- Tobacco (1)
- Tourism (1)
- Tourismusmarketing (1)
- Transformational leadership (1)
- Transplant (1)
- Transplantat (1)
- Transplantatabstoßung (1)
- Umsetzung <Informatik> (1)
- Urban Logistics (1)
- User Interfaces (1)
- Verbraucher (1)
- Vergleich (1)
- Vergleichsanalyse (1)
- Vermietsysteme (1)
- Vermietung (1)
- Versicherungsvertrag (1)
- Versicherungswirtschaft (1)
- Vertrag (1)
- Vertragsklausel (1)
- Verwaltung (1)
- Visualisierung (1)
- Visualization (1)
- WPC (1)
- Weben (1)
- Wirtschaft (1)
- Wissenschaftliches Arbeiten (1)
- Wissenschaftliches Publizieren (1)
- Wissensmanagement (1)
- Wood-Plastic-Composite (1)
- Word Counting (1)
- Working Out Loud (1)
- Working conditions (1)
- Zeitung (1)
- academic libraries (1)
- authority (1)
- automatisierte Bewertung (1)
- basidiomycetes (1)
- biocomposites (1)
- biofilm (1)
- bioplastics (1)
- biopolymers (1)
- body fat mass (1)
- cardiomyopathy (1)
- conceptual history (1)
- contagious mastitis (1)
- dairy cattle (1)
- durability test (1)
- ebike (1)
- ethics (1)
- gait output (1)
- gender (1)
- genetics (1)
- graduate (1)
- hand grip strength (1)
- hybrid biocomposites (1)
- hybrid textiles (1)
- identity, Catholic Church (1)
- individuelle Programmieraufgaben (1)
- influence of presumed influence (1)
- information system (1)
- intellectual history (1)
- lactic acid bacteria (1)
- land use (1)
- longitudinal study (1)
- lymphadenectomy (1)
- magnetometer (1)
- market data facts (1)
- mastitis (1)
- mechanical properties (1)
- mediatization of politics (1)
- menopause (1)
- natural fibers (1)
- obedience (1)
- occupational profile (1)
- openEHR (1)
- pediatrics (1)
- politicians (1)
- polymerase chain reaction (1)
- probiotic potential (1)
- process routes (1)
- professional life (1)
- prostate cancer (1)
- research information (1)
- sarcomere (1)
- sentinel lymph node dissection (1)
- service rate (1)
- sharing systems (1)
- social justice (1)
- staphylococci (1)
- stride ratio (1)
- superparamagnetic iron oxide nanoparticles (1)
- survey (1)
- water use (1)
- weaving technique (1)
- wissenschaftliche Bibliotheken (1)
- wood–moisture interaction (1)
- wood–polypropylene composite (1)
- work satisfaction (1)
- work-life balance (1)
- working life (1)
- x-ray micro-computed tomography (1)
- Ähnlichkeit (1)
- Öffentlichkeitsarbeit (1)
- Ökotourismus (1)
- Übung <Hochschule> (1)
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3
(2019)
The underlying genetic mechanisms and early pathological events of children with primary cardiomyopathy (CMP) are insufficiently characterized. In this study, we aimed to characterize the mutational spectrum of primary CMP in a large cohort of patients ≤18 years referred to a tertiary center. Eighty unrelated index patients with pediatric primary CMP underwent genetic testing with a panel-based next-generation sequencing approach of 89 genes. At least one pathogenic or probably pathogenic variant was identified in 30/80 (38%) index patients. In all CMP subgroups, patients carried most frequently variants of interest in sarcomere genes suggesting them as a major contributor in pediatric primary CMP. In MYH7, MYBPC3, and TNNI3, we identified 18 pathogenic/probably pathogenic variants (MYH7 n = 7, MYBPC3 n = 6, TNNI3 n = 5, including one homozygous (TNNI3 c.24+2T>A) truncating variant. Protein and transcript level analysis on heart biopsies from individuals with homozygous mutation of TNNI3 revealed that the TNNI3 protein is absent and associated with upregulation of the fetal isoform TNNI1. The present study further supports the clinical importance of sarcomeric mutation-not only in adult-but also in pediatric primary CMP. TNNI3 is the third most important disease gene in this cohort and complete loss of TNNI3 leads to severe pediatric CMP.