<style face="normal" font="default" size="100%">Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.</style>

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<style face="normal" font="default" size="100%">Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.</style>

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<style face="normal" font="default" size="100%">Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.</style>

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<style face="normal" font="default" size="100%">Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.</style>

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<style face="normal" font="default" size="100%">Insights into genetics, human biology and disease gleaned from family based genomic studies.</style>