Area of research
Condensed Matter Physics · Biomedical Engineering
Research interest
Research interests include Biology, Microcephaly, Hypotonia, Missense mutation, Frameshift mutation, and Ataxia.
Evolutionary conservation of the fidelity of transcription
ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum