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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
Download from doi.orgHigh Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
UploadReducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
UploadB3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation
UploadCirculating Cell Free Tumor DNA Detection as a Routine Tool forLung Cancer Patient Management
Download from doi.orgThe molecular and phenotypic spectrum ofIQSEC2-related epilepsy
UploadExpanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability
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