Associated Papers
A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review.
Liu X et al.
Brain and Behavior, 2023
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
Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome.
Han JY et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
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