Associated Papers
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli C et al.
Genes, 2021
34440332 (PubMed )
Supplement: genes-12-01157-s001.zip › genes-1245896-Table_S1.xlsx › Sheet1
Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations.
Toraman B et al.
The Journal of Gene Medicine, 2021
Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript.
Yamada M et al.
American Journal of Medical Genetics. Part A, 2020
Current developments in the genetics of Rett and Rett-like syndrome.
Ehrhart F et al.
Current Opinion in Psychiatry, 2018
Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.
Sáez MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
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