subject area of
- A patient-derived cellular model for Huntington’s disease reveals phenotypes at clinically relevant CAG lengths Journal Articles
- A rapid, reliable, and inexpensive method for detection of di- and trinucleotide repeat markers and disease loci from dried blood spots Journal Articles
- Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader–Willi syndrome: A new case and review of the literature Journal Articles
- Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array Journal Articles
- Hemiparesis and absent MRI findings in Freidreich's ataxia. Journal Articles
- Lack of expansion of triplet repeats in the FMR1, FRAXE, and FRAXF loci in male multiplex families with autism and pervasive developmental disorders Journal Articles
- Spinocerebellar Ataxia Type 1 protein Ataxin-1 is signaled to DNA damage by ataxia-telangiectasia mutated kinase Journal Articles
- Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities Journal Articles
- Trinucleotide repeats at the FRAXF locus: Frequency and distribution in the general population Journal Articles