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30 results on '"Relator, Raissa"'

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1. Epigenomic and phenotypic characterization of DEGCAGS syndrome

2. Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

3. Identification of the DNA methylation signature of Mowat-Wilson syndrome

4. The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

5. Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid

6. Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy

7. Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations

8. MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

10. Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases

11. DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7

12. Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene

13. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals

14. Identification of a robust DNA methylation signature for Fanconi anemia

15. DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder

16. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

17. DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency

18. Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

19. CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature

20. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

21. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

22. Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.

23. Computer Science Education for Primary and Lower Secondary School Students: Teaching the Concept of Automata

25. Functional Insight into and Refinement of the Genomic Boundaries of the JARID2 -Neurodevelopmental Disorder Episignature.

27. Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome.

28. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders.

29. Segmental HOG: new descriptor for glomerulus detection in kidney microscopy image.

30. Automated image analysis of a glomerular injury marker desmin in spontaneously diabetic Torii rats treated with losartan.

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