Associated Papers
A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus.
Silva S et al.
Clinical Genetics, 2025
A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia.
Martins M et al.
International Journal of Molecular Sciences, 2023
37628781 (PubMed )
Supplement: ijms-24-12603-s001.zip › ijms-2533004-supplementary.pdf
Diagnostic approach with genetic tests for global developmental delay and/or intellectual disability: Single tertiary center experience.
Han JY et al.
Annals of Human Genetics, 2019
Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.
Han JY et al.
Frontiers in Pediatrics, 2018
A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing.
Han JY et al.
Annals of Clinical and Laboratory Science, 2017
Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.
Han JY et al.
European Journal of Medical Genetics, 2017
Select a paper to view details