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Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability |
Ji Yoon Han, In Goo Lee |
Clin Exp Pediatr. 2020;63(6):195-202. Published online November 4, 2019 DOI: https://doi.org/10.3345/kjp.2019.00808 |
Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability Next-generation sequencing is a powerful method to enhance diagnostic yield in global developmental delay/intellectual disability Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing Clinical and genetic profile of children with unexplained intellectual disability/developmental delay and epilepsy Cost Effectiveness of Karyotyping, Chromosomal Microarray Analysis, and Targeted Next-Generation Sequencing of Patients with Unexplained Global Developmental Delay or Intellectual Disability Clinical next generation sequencing reveals an H3F3A gene as a new potential gene candidate for microcephaly associated with severe developmental delay, intellectual disability and growth retardation Next Generation Sequencing as a Tool for Noninvasive Prenatal Tests Global Developmental Delay and Intellectual Disability Global developmental delay and intellectual disability |