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266 results on '"Schott J"'

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2. Population-specific and cross-ancestry genome-wide association study identifies shared genetic architecture and 6 new risk loci including CAMK2D associated for Brugada syndrome

3. Modeling familial sinus node dysfunction with a large intergenic deletion between PITX2 and ANK2 using iPS cell-derived sinoatrial nodal-like cardiomyocytes

5. Non-coding deletion induces 3D chromatin remodelling and PITX2 expression dysregulation associated with a syndromic cardiac disorder

7. Syndromic cardiac disorder is associated with a non-coding deletion that induces a 3D chromatin remodeling and PITX2 expression dysregulation

11. Functional, structural and molecular characterization of a new mitral valve prolapse animal model : The FLNA-P637Q KI rat

14. Functional, structural and molecular characterization of a new mitral valve prolapse animal model: the FLNA-P637Q KI rat

15. Transitioning from cerebrospinal fluid to blood tests to facilitate diagnosis and disease monitoring in Alzheimer's disease

18. Fast Track hERG phenotyping to evaluate the pathogenicity of KCNH2 genetic variants

20. Determinants and prognostic significance of myocardial replacement fibrosis in patients with mitral valve prolapse

28. P2864A novel mechanism of sinus node dysfunction: intergenic deletion between PITX2 and ANK2 disrupts chromatin structure in pacemaker cell differentiation

31. The Dementias Platform UK (DPUK) Data Portal

35. Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

36. P5441Aortic valve phenotype associated with filamin-A mutations: a comprehensive echocardiographic and outcomes analyses

41. TRPM4 variants associated with long QT syndrome

47. A targeted proteomic multiplex CSF assay identifies increased malate dehydrogenase and other neurodegenerative biomarkers in individuals with Alzheimer’s disease pathology

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