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Molecular diagnosis of 405 individuals with autism spectrum disorder
UploadSystematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder
Download from doi.orgComplete sequencing of expandedSAMD12repeats by long-read sequencing and Cas9-mediated enrichment
UploadDe novo ATP1A3 variants cause polymicrogyria
Download from doi.orgHemizygous FLNA variant in West syndrome without periventricular nodular heterotopia
Download from www.nature.comEfficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses
Download from onlinelibrary.wiley.comWhole exome sequencing of fetal structural anomalies detected by ultrasonography
Download from www.nature.comPrenatal clinical manifestations in individuals with COL4A1/2 variants
UploadDe Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy
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