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

6. Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory

8. Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies

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

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

20. Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.

24. Health professionals’ involvement and information provision in genetic counseling following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong

25. Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy

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

28. Additional file 2: Table S2. of Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorderâ implications of a copy number variation involving DPP10

29. Additional file 4: Table S4. of Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorderâ implications of a copy number variation involving DPP10

30. Additional file 1: Table S1. of Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorderâ implications of a copy number variation involving DPP10

31. Additional file 3: Table S3. of Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorderâ implications of a copy number variation involving DPP10

32. Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay

38. Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10

41. Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy.

44. Decision outcomes in women offered noninvasive prenatal test (NIPT) for positive Down screening results.

47. The case for routine Gram stain following invasive prenatal procedures with retained intrauterine device.

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