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331 results on '"Lim, Weng Khong"'

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1. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

2. A Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes

3. Author Correction: Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases

5. Identification of constrained sequence elements across 239 primate genomes

7. Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes

8. Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 that Are Common in Chinese Patients

9. The Singapore National Precision Medicine Strategy

11. Clinical free text to HPO codes

13. Fundus autofluorescence features specific for EYS-associated retinitis pigmentosa.

15. Analysis of clinically relevant variants from ancestrally diverse Asian genomes

16. Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations.

17. Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia.

20. Identification of constrained sequence elements across 239 primate genomes

21. Identification of constrained sequence elements across 239 primate genomes

22. Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore

23. Loss-of-function SMPD1 gene variant in Progressive Supranuclear Palsy-Richardson Syndrome patients of Chinese ancestry

24. Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population

28. Data Mining of Electronic Health Records to Identify Undiagnosed Patients with Rare Genetic Diseases

29. A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review

30. NOTCH2NLC trinucleotide interruptions are associated with cognitive impairment in neuronal intranuclear inclusion disease (NIID)

31. Identification of constrained sequence elements across 239 primate genomes

32. Figure 1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

33. Figure 3 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

34. Figure 6 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

35. Table S2 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

36. Data from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

37. Figure 4 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

38. Supplementary Methods 1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

39. Figure 2 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

40. Figure 5 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

42. An Optimised Protocol Harnessing Laser Capture Microdissection for Transcriptomic Analysis on Matched Primary and Metastatic Colorectal Tumours

46. A global catalog of whole-genome diversity from 233 primate species

47. A global catalog of whole-genome diversity from 233 primate species

48. The landscape of tolerated genetic variation in humans and primates

49. The landscape of tolerated genetic variation in humans and primates

50. A global catalog of whole-genome diversity from 233 primate species

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