203 results on '"Qian, Yaping"'
Search Results
2. Enhanced photothermal interface evaporation via coupling of Ag-GO aerogel with thermal insulation substrate
3. Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomalies
4. Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism.
5. Identification of pathogenic retrotransposon insertions in cancer predisposition genes
6. Application of Next-Generation–Sequencing to the Diagnosis of Genetic Disorders: A Brief Overview
7. Challenges of Next-Generation–Sequencing-Based Molecular Diagnostics
8. Diagnosis of Inherited Neuromuscular Disorders by Next-Generation–Sequencing
9. A Survey of Next-Generation–Sequencing Technologies
10. Next-Generation–Sequencing-Based Noninvasive Prenatal Diagnosis
11. Exome Sequencing as a Discovery and Diagnostic Tool
12. Application of Next-Generation–Sequencing in Hearing Loss Diagnosis
13. Sanger Sequencing Principles, History, and Landmarks
14. A Review of DNA Enrichment Technologies
15. Data augmented multi-loss hybrid learning for cross-modality person re-identification
16. Unsupervised person re-identification guided by refinement feature in multi-label distribution sorting learning
17. Calpains mediate axonal cytoskeleton disintegration during Wallerian degeneration
18. The altered activity of complex III may contribute to the high penetrance of Leber's hereditary optic neuropathy in a Chinese family carrying the ND4 G11778A mutation
19. An Anchor-Free Target Detection Algorithm Combining Attention and Dilation Convolution
20. Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation
21. Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation
22. Very high penetrance and occurrence of Leber’s hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation
23. A k-interpolation Model Clustering Algorithm based on Kriging Method
24. Low dose naltrexone administration in morphine dependent rats attenuates withdrawal-induced norepinephrine efflux in forebrain
25. The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3
26. Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family
27. The mitochondrial tRNA Ala T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss
28. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss
29. Next Generation Sequencing Technologies in Medical Genetics
30. Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNA Ser(UCN) genes in two Chinese families
31. Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation
32. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: Implication for early detection and prevention of deafness
33. Leber’s hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families
34. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA T1095C mutation in three Chinese families
35. Maternally transmitted diabetes mellitus associated with the mitochondrial tRNA Leu(UUR) A3243G mutation in a four-generation Han Chinese family
36. Leber’s hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families
37. Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations
38. The 253 KB Inversion and 118 (−308) C>T Intronic Mutations in UNC13D Are Common in Patients with Familial Hemophagocytic Lymphohistiocytosis Type 3 (FHL3) in North America
39. Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss
40. Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation
41. Only male matrilineal relatives with Leber’s hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation
42. Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber’s hereditary optic neuropathy
43. A Human Genome Diversity Cell Line Panel
44. Data augmented multi-loss hybrid learning for cross-modality person re-identification
45. Unsupervised person re-identification guided by refinement feature in multi-label distribution sorting learning
46. Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss
47. Cosegregation of the G7444A Mutation in the Mitochondrial COI/tRNASer(UCN) Genes with the 12S rRNA A1555G Mutation in a Chinese Family with Aminoglycoside-induced and Nonsyndromic Hearing Loss
48. Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation
49. Construction and characterization of bacterial artificial chromosome library of black-handed spider monkey (Ateles geoffroyi)
50. Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle
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