25 results on '"Wai, Htoo A."'
Search Results
2. A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
3. Classification of Unsafe Children’s Toys Based on NLP-Generated Corpus
4. A study of the regulatory role of retinoic acid receptor gamma in zebrafish development
5. Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly
6. RNA-sequencing first approach generates new diagnostic candidates in Mendelian disorders
7. Predicting the impact of rare variants on RNA splicing in CAGI6
8. Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature
9. A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
10. A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
11. Temporal Whole-Transcriptomic Analysis of Characterized In Vitro and Ex Vivo Primary Nasal Epithelia
12. Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis
13. Additional file 1 of A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
14. Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
15. Transcriptome analysis of ciliary differentiation in airway epithelium
16. Comparison of in Silico Strategies to Prioritize Rare Genomic Variants Impacting RNA Splicing for the Diagnosis of Genomic Disorders
17. Early life exposure to ethinylestradiol enhances subsequent responses to environmental estrogens measured in a novel transgenic zebrafish
18. Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
19. Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
20. Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders
21. Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
22. RNA splicing analysis in genomic medicine
23. Systematic review and meta-analysis: Is lifestyle modification effective for glycemic control among adults with type II diabetes in Southeast Asia?
24. The Development and Growth of Tissues Derived from Cranial Neural Crest and Primitive Mesoderm Is Dependent on the Ligation Status of Retinoic Acid Receptor γ: Evidence That Retinoic Acid Receptor γ Functions to Maintain Stem/Progenitor Cells in the Absence of Retinoic Acid
25. Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders.
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