Found: 13
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Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 19, doi. 10.3390/ijns10010019
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- Publication type:
- Article
Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 3, p. 45, doi. 10.3390/ijns9030045
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- Publication type:
- Article
Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 64, doi. 10.3390/ijns8040064
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- Publication type:
- Article
Cost-benefit analysis of Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: For Consideration of Expanded Newborn Screening in Hong Kong.
- Published in:
- Journal of Medical Screening, 2014, v. 21, n. 2, p. 61, doi. 10.1177/0969141314533531
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- Publication type:
- Article
Cost-benefit analysis of Hyperphenylalaninemia Due to 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: For Consideration of Expanded Newborn Screening in Hong Kong.
- Published in:
- 2012
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- Publication type:
- Journal Article
A Territory-Wide Study of Arrhythmogenic Right Ventricular Cardiomyopathy Patients from Hong Kong.
- Published in:
- Reviews in Cardiovascular Medicine, 2022, v. 23, n. 7, p. 1, doi. 10.31083/j.rcm2307231
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- Publication type:
- Article
Performance evaluation of five commercial assays for detection of acetaminophen.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism.
- Published in:
- Journal of Laboratory Medicine, 2021, v. 45, n. 6, p. 267, doi. 10.1515/labmed-2021-0115
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- Publication type:
- Article
Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 8, p. 617, doi. 10.1038/jhg.2011.63
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- Publication type:
- Article
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 1, p. 55, doi. 10.1007/s10038-007-0218-2
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- Publication type:
- Article
Association of Red Meat Intake and Colorectal Cancer among East-Asians: A Systematic Review and Meta-analysis of Observational Studies Performed between 2011-2021.
- Published in:
- Journal of Gastrointestinal & Liver Diseases, 2023, v. 32, n. 3, p. 377, doi. 10.15403/jgld-4778
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- Publication type:
- Article
Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.
- Published in:
- Clinical & Translational Medicine, 2016, v. 5, n. 1, p. 1, doi. 10.1186/s40169-016-0098-1
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- Publication type:
- Article
Isolated persistent elevation of alanine transaminase for early diagnosis of pre-symptomatic Wilson’s disease in Chinese children.
- Published in:
- World Journal of Pediatrics, 2013, v. 9, n. 4, p. 361, doi. 10.1007/s12519-013-0436-y
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- Publication type:
- Article