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Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells.
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Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
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Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
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The PREGCARE study: precision genetic counselling via personalised evaluation of recurrence risk for families with a child affected by a disorder caused by a de novo mutation
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A clinical diagnostic algorithm for early onset cerebellar ataxia.
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A case-note review of continued pregnancies found to be at a high risk of Huntington's disease: considerations for clinical practice.
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Meaningful and Measurable Health Domains in Huntington's Disease: Large-Scale Validation of the Huntington's Disease Health-Related Quality of Life Questionnaire Across Severity Stages.
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Germline selection shapes human mitochondrial DNA diversity.
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Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
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