<style face="normal" font="default" size="100%">De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.</style>

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<style face="normal" font="default" size="100%">De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.</style>

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<style face="normal" font="default" size="100%">Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.</style>