Associated Papers
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.
Yin J et al.
Genes, 2020
Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy.
Lee J et al.
Frontiers in Pharmacology, 2020
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.
Zahorakova D et al.
Journal of Human Genetics, 2016
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.
Zahorakova D et al.
Journal of Human Genetics, 2007
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.
Kammoun F et al.
Journal of Medical Genetics, 2004
A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene.
Bzduch V et al.
Bratislavske Lekarske Listy, 2004
[Analysis of the most frequent mutations in girls with Rett syndrome].
Rosipal R et al.
Casopis Lekaru Ceskych, 2001
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