Ah R. Kim
Seoul, Republic of Korea
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 48 publications
Whole exome sequencing and clinical investigation of young onset dystonia: What can we learn?
Journal: Parkinsonism & related disorders
Published: March 23, 2023
Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal Anomalies.
Journal: Korean journal of ophthalmology : KJO
Published: July 18, 2020
Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation.
Journal: Clinical neurology and neurosurgery
Published: May 03, 2020
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.
Journal: Parkinsonism & related disorders
Published: May 02, 2020
Lighthouse in the open sea of spastic ataxia; what are the features that should not be missed in SPG11?
Journal: Parkinsonism & related disorders
Published: April 11, 2020
Genomic Analysis of Korean Patient With Microcephaly.
Journal: Frontiers in genetics
Published: March 17, 2020
Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia.
Journal: Journal of movement disorders
Published: December 08, 2019
A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing.
Journal: Neonatology
Published: July 03, 2019
Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy.
Journal: Journal of medical genetics
Published: May 12, 2019
Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review.
Journal: Cerebellum (London, England)
Published: January 13, 2019
Last Updated: 09/26/2026