Rin Khang

Seoul, Republic of Korea

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 32 publications

Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex.

Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex.

Journal: BMC pediatrics

Published: March 18, 2026

From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.

From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.

Journal: Journal of child neurology

Published: December 23, 2025

Spastic Quadriplegia Resulting From a Pathogenic Variant in the SPAST Gene: A First Report.

Spastic Quadriplegia Resulting From a Pathogenic Variant in the SPAST Gene: A First Report.

Journal: Case reports in neurological medicine

Published: September 24, 2025

Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family.

Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family.

Journal: Clinical dysmorphology

Published: June 21, 2025

Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study.

Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study.

Journal: Clinical and translational medicine

Published: December 17, 2024

Upregulation of p52-ZER6 (ZNF398) increases reactive oxygen species by suppressing metallothionein-3 in neuronal cells.

Upregulation of p52-ZER6 (ZNF398) increases reactive oxygen species by suppressing metallothionein-3 in neuronal cells.

Journal: Biochemical and biophysical research communications

Published: November 04, 2024

A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.

A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.

Journal: Molecular genetics & genomic medicine

Published: September 19, 2024

Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.

Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.

Journal: Frontiers in pediatrics

Published: August 29, 2024

Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program.

Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program.

Journal: Human mutation

Published: August 26, 2024

Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.

Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.

Journal: NPJ genomic medicine

Published: June 12, 2024

Corneal Myofibromatous and Pterygium-Like Changes in a Family With a PDGFRB Variant.

Corneal Myofibromatous and Pterygium-Like Changes in a Family With a PDGFRB Variant.

Journal: Cornea

Published: June 05, 2024

TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.

TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.

Journal: American journal of medical genetics. Part A

Published: January 19, 2024

Showing 1-12 of 32

Last Updated: 09/26/2026