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1.
Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.
Clin Genet
; 97(5): 747-757, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32022900
2.
pH affects the aqueous-phase nitrate-mediated photooxidation of phenolic compounds: implications for brown carbon formation and evolution.
Environ Sci Process Impacts
; 25(2): 176-189, 2023 Feb 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-35293417
3.
A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.
Front Neurosci
; 13: 1324, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31920494
4.
Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11.
Cold Spring Harb Mol Case Stud
; 2(6): a001248, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27900367
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