Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification

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BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

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CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

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The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.

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A Rare Case of Staphylococcus carnosus Bacteremia and Discitis.

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Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification

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Aberrant Proliferation and Cell Fate Underlie Oral Defects in a Mouse Model of EvC Syndrome.

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Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification

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