subject area of
- A patient-derived cellular model for Huntington’s disease reveals phenotypes at clinically relevant CAG lengths Academic Article
- A rapid, reliable, and inexpensive method for detection of di- and trinucleotide repeat markers and disease loci from dried blood spots Academic Article
- Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader-Willi syndrome: A new case and review of the literature Academic Article
- Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array Academic Article
- Lack of expansion of triplet repeats in the FMR1, FRAXE, and FRAXF loci in male multiplex families with autism and pervasive developmental disorders Academic Article
- No evidence of paternal transmission of fragile X syndrome Academic Article
- Paternal transmission of the congenital form of myotonic dystrophy type 1: A new case and review of the literature Academic Article
- Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase Academic Article
- Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities Academic Article
- Trinucleotide repeats at the FRAXF locus: Frequency and distribution in the general population Academic Article