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27 results on '"Jasmine Lee"'

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3. Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis

4. Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese

7. O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

8. Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, China

9. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

10. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

11. Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population

12. Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis

13. Exome sequencing in paediatric patients with movement disorders

14. Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data

15. Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature

16. Exome Sequencing in Paediatric Patients with Movement Disorders with Treatment Possibilities

18. Delineation of molecular findings by whole exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

19. Delineation of molecular findings by whole exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

21. Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong

22. Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

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