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Steven L. C. Pei

Li Ka Shing Faculty of Medicine, University of Hong Kong

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Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.

2020 Molecular Genetics & Genomic Medicine
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Mono-allelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction.

2020
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NLRP3 inflammasome contributes to host defense against Talaromyces marneffei infection

2020 bioRxiv
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Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome

2019 American Journal of Medical Genetics Part A
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