11 results on '"Tedder, Matthew L."'
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2. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
3. Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
4. Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene
5. DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency
6. DNA methylation episignature in Gabriele-de Vries syndrome
7. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
8. Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
9. 30. The application of DNA methylation episignatures to resolve variants of uncertain clinical significance
10. Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
11. eP392 - Novel pathogenic sequence variants in Yin Yang 1 (YY1) transcription factor and abnormal DNA methylation profile
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