Molecular genetic characteristics of X-linked retinoschisis in Koreans

Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation.

Molecular characterization of Leber congenital amaurosis in Koreans.

Mitochondrial DNA content is decreased in autosomal dominant optic atrophy.

Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs.

Mitochondrial DNA C4171A/ND1 is a Novel Primary Causative Mutation of Leber's Hereditary Optic Neuropathy with a Good Prognosis.

LCA5, a rare genetic cause of leber congenital amaurosis in Koreans.

Ophthalmoplegia diagnosis.

False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy.

Low contribution of BRCA1/2 genomic rearrangement to high-risk breast cancer in the Korean population.