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1.
Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations.
Genet Med
; 25(9): 100896, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37191093
2.
Evaluating the Health-Related Quality of Life of the Rare Disease Population in Hong Kong Using EQ-5D 3-Level.
Value Health
; 25(9): 1624-1633, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35568675
3.
Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.
Am J Med Genet A
; 182(2): 279-288, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31755649
4.
Access and Unmet Needs of Orphan Drugs in 194 Countries and 6 Areas: A Global Policy Review With Content Analysis.
Value Health
; 23(12): 1580-1591, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33248513
5.
Socio-economic costs of rare diseases and the risk of financial hardship: a cross-sectional study.
Lancet Reg Health West Pac
; 34: 100711, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-37283971
6.
Client Service Receipt Inventory as a standardised tool for measurement of socio-economic costs in the rare genetic disease population (CSRI-Ra).
Sci Rep
; 11(1): 23837, 2021 12 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-34903789
7.
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
NPJ Genom Med
; 5(1): 37, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32963807
8.
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Lancet Reg Health West Pac
; 1: 100001, 2020 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-34327338
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