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Found 52 publications

Sleep in children with microcephaly due to Zika virus infection: a systematic review.

Severe isolated sulfide oxidase deficiency with a novel mutation.

NK Cell Responses in Zika Virus Infection Are Biased towards Cytokine-Mediated Effector Functions.

Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly.

A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity.

Global kinome profiling reveals DYRK1A as critical activator of the human mitochondrial import machinery.

Human Microcephaly Protein RTTN Is Required for Proper Mitotic Progression and Correct Spindle Position.

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.

Intrauterine exposure to Zika virus and hearing loss within the first few years of life: A systematic literature review.

Retinal Features of Family Members With Familial Exudative Vitreoretinopathy Caused By Mutations in KIF11 Gene.

Clinical features of epilepsy in children with IRF2BPL gene variation.

Showing 1-12 of 52