Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation

"Analysis of trinucleotide repetitive sequences for Korean patients with spinocerebellar ataxia types 8, 12, and 17"

Two cases of TSC2/PKD1 contiguous gene deletion syndrome

Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures

Substrate reduction therapy in three patients with Gaucher disease

Pseudohypoparathyroidism type 1b due to paternal uniparental disomy of chromosome 20q: A case report

Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency

A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis

Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12