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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Download from doi.orgPathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
Download from doi.orgEfficient 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.comGenetic abnormalities in a large cohort of Coffin–Siris syndrome patients
Download from www.nature.comComprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
Download from www.nature.comA novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia
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