Publications
Filters: Author is Lin, Siying [Clear All Filters]
Delineating the expanding phenotype associated with SCAPER gene mutation. Am J Med Genet A. 2019 ;179(8):1665-1671.
. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med. 2022 ;24(3):631-644.
. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet. 2018 ;14(8):e1007504.
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