Skip to main content
Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment.
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.
Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.
Activating mutations cluster in the "molecular brake" regions of protein kinases and do not associate with conserved or catalytic residues.
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity.
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.