172 results on '"Oh, Doo-Yi"'
Search Results
2. Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss
3. Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss
4. Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach
5. Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity
6. MET Exon 14 Skipping Mutations in Lung Adenocarcinoma: Clinicopathologic Implications and Prognostic Values
7. The molecular etiology of deafness and auditory performance in the postlingually deafened cochlear implantees
8. Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population
9. Cancer-Specific Sequences in the Diagnosis and Treatment of NUT Carcinoma
10. Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics
11. Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness
12. A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder
13. Clinical utility and improved speed of analysis by automated variant prioritization system in genetic hearing loss
14. Nicotine Inhibits bFGF-induced Neurite Outgrowth through Suppression of NO Synthesis in H19-7 Cells
15. Flexible real-time polymerase chain reaction-based platforms for detecting deafness mutations in Koreans: A proposed guideline for the etiologic diagnosis of auditory neuropathy spectrum disorder
16. Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s
17. TM4SF4 and LRRK2 Are Potential Therapeutic Targets in Lung and Breast Cancers through Outlier Analysis
18. Natural Course of Residual Hearing with Reference to GJB2 and SLC26A4 Genotypes: Clinical Implications for Hearing Rehabilitation
19. Advanced lipid extraction method for the determination of the phospholipase D activity
20. Perifosine-Induced Inhibition of Akt Attenuates Brain-Derived Neurotrophic Factor/TrkB-Induced Chemoresistance In Neuroblastoma In Vivo
21. Genetic Information and Precision Medicine in Hearing Loss
22. Novel genotype–phenotype correlation of functionally characterized LMX1A variants linked to sensorineural hearing loss
23. Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder
24. Mutations in TMEM43 cause autosomal dominant auditory neuropathy spectrum disorder via interaction with connexin-mediated passive conductance channels
25. Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation
26. IRS2 Amplification as a Predictive Biomarker in Response to Ceritinib in Small Cell Lung Cancer
27. POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features
28. TMEM43, a novel passive conductance channel of cochlear glia is critical for maintenance of speech discrimination
29. Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of humanDIAPH1-related cytoskeletopathy
30. Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans
31. Identification of a Novel Frameshift Variant ofPOU3F4and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes
32. Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and humanOTOAvariants associated with deafness
33. Rising of LOXHD1as a signature causative gene of down-sloping hearing loss in people in their teens and 20s
34. Natural Course of Residual Hearing with Reference to GJB2 and SLC26A4 Genotypes: Clinical Implications for Hearing Rehabilitation.
35. Self-regulated mechanism of Plk1 localization to kinetochores: lessons from the Plk1-PBIP1 interaction
36. A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study
37. One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR
38. Natural Course of Residual Hearing with Reference to GJB2and SLC26A4Genotypes: Clinical Implications for Hearing Rehabilitation
39. ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy
40. The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans
41. Patient-Derived Xenograft Models of Epithelial Ovarian Cancer for Preclinical Studies
42. Prevalence of Mutations in Discoidin Domain-Containing Receptor Tyrosine Kinase 2 (DDR2) in Squamous Cell Lung Cancers in Korean Patients
43. Molecular breakdown: a comprehensive view of anaplastic lymphoma kinase (ALK)-rearranged non-small cell lung cancer
44. Precision medicine approaches to lung adenocarcinoma with concomitant MET and HER2 amplification
45. Abstract 3872: Retinoic acid (RA) relieves EZH2-mediated epigenetic suppression in high-risk neuroblastoma (HR-NB)
46. Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss
47. P3.02c-005 MET Exon 14 Skipping in Quintuple-Negative (EGFR-/KRAS-/ALK-/ROS1-/RET-) Lung Adenocarcinoma
48. Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes.
49. Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness.
50. LYN expression predicts the response to dasatinib in a subpopulation of lung adenocarcinoma patients
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