<style face="normal" font="default" size="100%">Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.</style>

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<style face="normal" font="default" size="100%">Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.</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 and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.</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>

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<style face="normal" font="default" size="100%">The phenotypic spectrum of Xia-Gibbs syndrome.</style>

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<style face="normal" font="default" size="100%">Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.</style>