Associated Papers
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.
Lee J et al.
Molecular Genetics & Genomic Medicine, 2020
32613771 (PubMed )
Supplement: MGG3-8-e1376-s001.docx
Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia.
Lin P et al.
Journal of Human Genetics, 2018
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
Dimassi S et al.
Clinical Genetics, 2016
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