Area of research
Genetics · Molecular Biology
Research interest
Research interests include Biology, Genetics, Medicine, Gene, Pathology, and Phenotype.
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <i>POLR3A</i>, <i>POLR3B</i> and <i>POLR1C</i>
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>
GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder
Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders
Mutation update for the <i>SATB2</i> gene
Inside Back Cover, Volume 41, Issue 1
Natural History of Vanishing White Matter
Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation
CSF and Blood Levels of GFAP in Alexander Disease
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
Splice site, frameshift, and chimeric<i>GFAP</i>mutations in Alexander disease