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Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra).
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-03379-5
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- Publication type:
- Article
Understanding and perception of direct‐to‐consumer genetic testing in Hong Kong.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 6, p. 1640, doi. 10.1002/jgc4.1430
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- Publication type:
- Article
'Do language and culture really matter?': A trans‐disciplinary investigation of cultural diversity in genetic counseling in Hong Kong.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 1, p. 75, doi. 10.1002/jgc4.1385
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- Publication type:
- Article
Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
- Published in:
- 2021
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- Publication type:
- Letter
Long-surviving Neu-Laxova syndrome confirmed by whole exome sequencing: a case report.
- Published in:
- Hong Kong Medical Journal, 2024, v. 30, n. 4, p. 328, doi. 10.12809/hkmj2311182
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- Publication type:
- Article
Importance of cascade family screening and precision medicine for patients with familial hyperkalaemia: a case report.
- Published in:
- Hong Kong Medical Journal, 2022, v. 28, n. 5, p. 406, doi. 10.12809/hkmj219513
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- Publication type:
- Article
Clinical and molecular features of pleuropulmonary blastoma in children in Hong Kong: case reports.
- Published in:
- Hong Kong Medical Journal, 2022, v. 28, n. 4, p. 328, doi. 10.12809/hkmj219503
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- Publication type:
- Article
Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series.
- Published in:
- Hong Kong Medical Journal, 2021, v. 27, n. 6, p. 444, doi. 10.12809/hkmj209001
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- Publication type:
- Article
Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00535-y
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- Publication type:
- Article
Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, China.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1702
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- Publication type:
- 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.
- Published in:
- 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.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 5, p. 1, doi. 10.1002/mgg3.1205
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- Publication type:
- Article
Revealing the role of SPP1<sup>+</sup> macrophages in glioma prognosis and therapeutic targeting by investigating tumor-associated macrophage landscape in grade 2 and 3 gliomas.
- Published in:
- Cell & Bioscience, 2024, v. 14, n. 1, p. 1, doi. 10.1186/s13578-024-01218-4
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- Publication type:
- Article
Rare SUZ12 variants commonly cause an overgrowth phenotype.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 532, doi. 10.1002/ajmg.c.31748
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- Publication type:
- Article
Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 196, doi. 10.1002/ajmg.c.31697
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- Publication type:
- Article
The different facets of "culture" in genetic counseling: A situated analysis of genetic counseling in Hong Kong.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 187, doi. 10.1002/ajmg.c.31699
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- Publication type:
- Article
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 2, p. 208, doi. 10.1002/ajmg.c.31692
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- Publication type:
- Article
Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1562, doi. 10.1002/ajmg.a.62665
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- Publication type:
- Article
A case of G1013R FBN1 mutation: A potential genotype–phenotype correlation in severe Marfan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1329, doi. 10.1002/ajmg.a.61567
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- Publication type:
- Article
Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 279, doi. 10.1002/ajmg.a.61412
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- Publication type:
- Article
Coffin–Lowry syndrome in Chinese.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2043, doi. 10.1002/ajmg.a.61323
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- Publication type:
- Article
Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2467, doi. 10.1002/ajmg.a.38321
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- Publication type:
- Article
Cover Image, Volume 173A, Number 4, April 2017.
- Published in:
- 2017
- By:
- Publication type:
- Other
22q11.2 deletion syndrome in diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 879, doi. 10.1002/ajmg.a.38199
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- Publication type:
- Article
Down syndrome in diverse populations.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 42, doi. 10.1002/ajmg.a.38043
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- Publication type:
- Article
Physical measurements of Chinese children in Hong Kong-A pilot study in preschools and kindergartens.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2069, doi. 10.1002/ajmg.a.37764
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- Publication type:
- Article
The Clinical Impact of Chromosomal Microarray on Paediatric Care in Hong Kong.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109629
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- Publication type:
- Article
Whole-Genome Array CGH Evaluation for Replacing Prenatal Karyotyping in Hong Kong.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0087988
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- Publication type:
- Article
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00347-4
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- Publication type:
- 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
Genome-Wide DNA Methylation Profiling as Frontline Diagnostics for Central Nervous System Embryonal Tumors in Hong Kong.
- Published in:
- Cancers, 2023, v. 15, n. 19, p. 4880, doi. 10.3390/cancers15194880
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- Publication type:
- Article
A fatal case of COQ7‐associated primary coenzyme Q<sub>10</sub> deficiency.
- Published in:
- 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
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
Asthma subtypes and risk of cardiovascular disease: A Mendelian randomization study.
- Published in:
- Pediatric Allergy & Immunology, 2023, v. 34, n. 7, p. 1, doi. 10.1111/pai.13987
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- Publication type:
- Article
Neuroimaging in Primary Coenzyme-Q 10 -Deficiency Disorders.
- Published in:
- Antioxidants, 2023, v. 12, n. 3, p. 718, doi. 10.3390/antiox12030718
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- Publication type:
- Article
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 40, doi. 10.1002/mgg3.258
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- Publication type:
- Article
Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses.
- Published in:
- Journal of the American Heart Association, 2023, v. 12, n. 4, p. 1, doi. 10.1161/JAHA.122.028226
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- Publication type:
- Article
Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review.
- Published in:
- Pediatric Blood & Cancer, 2023, v. 70, n. 4, p. 1, doi. 10.1002/pbc.30157
- By:
- Publication type:
- Article
Increasing prenatal diagnosis of chimeras with the use of noninvasive prenatal screening: Report of two cases.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 6, p. 697, doi. 10.1002/pd.5911
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- Publication type:
- Article
Increasing prenatal diagnosis of chimeras with the use of noninvasive prenatal screening: Report of two cases.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Smoking as a Risk Factor for Complications Following Total Joint Arthroplasty.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Evaluating a Child with Partial Developmental Delay (ParDD), Global Developmental Delay (GDD)/Mental Retardation (MR): Clinical Expertise Based or Evidence-Based?
- Published in:
- Current Pediatric Reviews, 2006, v. 2, n. 2, p. 143, doi. 10.2174/157339606776894621
- By:
- Publication type:
- Article