Found: 15
Select item for more details and to access through your institution.
Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.620162
- By:
- Publication type:
- Article
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
- Published in:
- PLoS Genetics, 2021, v. 17, n. 2, p. 1, doi. 10.1371/journal.pgen.1009323
- By:
- Publication type:
- Article
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00287-z
- By:
- Publication type:
- Article
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0091-x
- By:
- Publication type:
- Article
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory.
- Published in:
- Healthcare (2227-9032), 2022, v. 10, n. 12, p. 2521, doi. 10.3390/healthcare10122521
- By:
- Publication type:
- Article
Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy.
- Published in:
- Epilepsia Open, 2019, v. 4, n. 1, p. 63, doi. 10.1002/epi4.12282
- By:
- Publication type:
- Article
Exome sequencing in paediatric patients with movement disorders.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Perception of personalized medicine, pharmacogenomics, and genetic testing among undergraduates in Hong Kong.
- Published in:
- Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00353-0
- By:
- Publication type:
- Article
Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169553
- By:
- Publication type:
- Article
Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 01, doi. 10.3389/fgene.2022.933381
- By:
- Publication type:
- Article
A case of prenatal isolated talipes and 22q11.2 deletion syndrome-an important chromosomal disorder missed by noninvasive prenatal screening.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
- Published in:
- Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0182-4
- By:
- Publication type:
- Article
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder--implications of a copy number variation involving DPP10.
- Published in:
- Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0136-x
- By:
- Publication type:
- Article
Prevalence of silent kidney disease in Hong Kong: The Screening for Hong Kong Asymptomatic Renal Population and Evaluation (SHARE) program.
- Published in:
- Kidney International, 2005, v. 67, p. S36, doi. 10.1111/j.1523-1755.2005.09410.x
- By:
- Publication type:
- Article
Prevalence of silent kidney disease in Hong Kong: The Screening for Hong Kong Asymptomatic Renal Population and Evaluation (SHARE) program.
- Published in:
- Kidney International Supplement, 2005, n. 94, p. 36, doi. 10.1111/j.1523-1755.2005.09410.x
- By:
- Publication type:
- Article