Works matching AU Tsang, Mandy
Results: 16
CTNNB1‐related neurodevelopmental disorder in a Chinese population: A case series.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 130, doi. 10.1002/ajmg.a.62504
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- Article
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
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- Human Genomics, 2020, v. 14, n. 1, p. N.PAG, doi. 10.1186/s40246-020-00278-0
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- Article
Sox9 regulates cell state and activity of embryonic mouse mammary progenitor cells.
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- Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0215-3
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- Article
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00287-z
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- Article
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1229
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- Publication type:
- Article
Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1205
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- Article
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
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- Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0182-4
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- Article
A fatal case of COQ7‐associated primary coenzyme Q<sub>10</sub> deficiency.
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- Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 23, doi. 10.1002/jmd2.12032
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- Publication type:
- Article
Successful transition from insulin to sulphonylurea in a child with neonatal diabetes mellitus diagnosed beyond six months of age due to C42R mutation in the KCNJ11 gene.
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- Clinical Pediatric Endocrinology, 2022, v. 31, n. 3, p. 168, doi. 10.1297/cpe.2022-0013
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- Article
Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy.
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- Epilepsia Open, 2019, v. 4, n. 1, p. 63, doi. 10.1002/epi4.12282
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- Article
Exome sequencing in paediatric patients with movement disorders.
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- 2021
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- Publication type:
- journal article
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00144-x
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- 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
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- Publication type:
- Article
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
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- PLoS Genetics, 2021, v. 17, n. 2, p. 1, doi. 10.1371/journal.pgen.1009323
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- Article
Clinical and molecular features of pleuropulmonary blastoma in children in Hong Kong: case reports.
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- Hong Kong Medical Journal, 2022, v. 28, n. 4, p. 328, doi. 10.12809/hkmj219503
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- Publication type:
- Article
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
- Published in:
- BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0409-z
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- Publication type:
- Article