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1. Genome Sequencing for Diagnosing Rare Diseases

2. Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

3. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

4. Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets

5. RareACTN2Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation

6. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

7. Contributors

9. Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

10. Identification of ade novomutation inTLK1associated with a neurodevelopmental disorder and immunodeficiency

11. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

12. Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project

13. P523: The NeuroDev Study: Genetic characterization of neurodevelopmental disorders in African populations

14. P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions

15. The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

16. Centers for Mendelian Genomics: A decade of facilitating gene discovery

17. seqr : A web‐based analysis and collaboration tool for rare disease genomics

18. Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

19. The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

20. JAK inhibition in a patient with a STAT1 gain-of-function variant reveals STAT1 dysregulation as a common feature of aplastic anemia

21. Harmonizing variant classification for return of results in the All of Us Research Program

22. seqr : a web-based analysis and collaboration tool for rare disease genomics

23. Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test

24. B-YIA1-02 MONOGENIC AND POLYGENIC CONTRIBUTIONS TO QTC PROLONGATION IN THE POPULATION

27. Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)

28. Launch of the gene curation coalition database

29. An N-of-1 Trial of Itacitinib for a Patient with Aplastic Anemia Associated with a Gain-of-Function Variant in STAT1

31. A Framework for Automated Gene Selection in Genomic Screening

32. Abstract 14629: Rare Variants for Electrocardiographic Traits Identify Arrhythmia Susceptibility Genes

33. Prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test

34. Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

39. Stigma and negative self-perceptions of young people living with human immunodeficiency virus in Bandung, Indonesia: a case series

42. Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing

43. Evaluation of a point of care ultrasound curriculum for Indonesian physicians taught by first-year medical students

44. Comparison of ultrasound-measured properties of the common carotid artery to tobacco smoke exposure in a cohort of Indonesian patients

45. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

48. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

49. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

50. Mutation mapping and identification by whole-genome sequencing

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