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28 results on '"German Demidov"'

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1. Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

2. Genomes in clinical care

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3. UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescentsResearch in context

4. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

5. Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank

6. Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumours

7. Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data

8. Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation.

9. Detection and Characterization of a De Novo Alu Retrotransposition Event Causing <scp>NKX2</scp> ‐1 ‐Related Disorder

10. Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

11. New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing

12. ClinCNV: multi-sample germline CNV detection in NGS data

13. Enhanced epigenetic profiling of classical human monocytes reveals a specific signature of healthy aging in the DNA methylome

14. Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour within the project Solve-RD

15. Transcript-Specific Loss-of-Function Variants in

17. Epigenetic aging of classical monocytes from healthy individuals

18. Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumours

19. MDM2, MDM4 and EGFR Amplifications and Hyperprogression in Metastatic Acral and Mucosal Melanoma

20. ClinCNV: novel method for allele-specific somatic copy-number alterations detection

21. Radiogenomics in head and neck cancer: correlation of radiomic heterogeneity and somatic mutations in TP53, FAT1 and KMT2D

22. Allele balance bias identifies systematic genotyping errors and false disease associations

23. Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation

24. A stochastic model of the formation of the molecular configuration of an enhancer site

25. Circulating cell-free DNA: A potential biomarker to differentiate inflammation and infection during radiochemotherapy

26. Germline determinants of the somatic mutation landscape in 2,642 cancer genomes

27. A statistical approach to detection of copy number variations in PCR-enriched targeted sequencing data

28. Cold Case (Season II): TTN deletion described after CNV analyses