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29 results on '"Stefan Gräf"'

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1. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report

2. NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants

3. Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension

4. ‘There and Back Again’—Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension

5. The role of genomics and genetics in pulmonary arterial hypertension

6. Expression quantitative trait locus mapping in pulmonary arterial hypertension

7. Familial pulmonary arterial hypertension by KDR heterozygous loss of function

8. Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

9. Molecular genetic framework underlying pulmonary arterial hypertension

10. Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations

11. Mendelian randomisation analysis of red cell distribution width in pulmonary arterial hypertension

12. Whole Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome

13. Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension

14. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

15. Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

16. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

17. How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study

18. The ADAMTS13–VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension

19. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

20. Loss of Function ABCC8 Mutations in Pulmonary Arterial Hypertension

21. De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

22. Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension

23. Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

24. HGVA: the Human Genome Variation Archive

25. Response by Hadinnapola et al to Letter Regarding Article, 'Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension'

26. Reliable gene expression profiling of formalin-fixed paraffin-embedded breast cancer tissue (FFPE) using cDNA-mediated annealing, extension, selection, and ligation whole-genome (DASL WG) assay

27. The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups

28. Ensembl's 10th year

29. An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs)

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