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UnknownWhole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Not available
S-EPMC8850201 | biostudies-literature
UnknownScaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Not available
S-EPMC8456155 | biostudies-literature
UnknownGenomic loci susceptible to systematic sequencing bias in clinical whole genomes.
Not available
S-EPMC7111519 | biostudies-literature
Unknown[<sup>11</sup>C]metomidate PET-CT versus adrenal vein sampling for diagnosing surgically curable primary aldosteronism: a prospective, within-patient trial.
Not available
S-EPMC9873572 | biostudies-literature
UnknownSubstitution mutational signatures in whole-genome-sequenced cancers in the UK population.
Not available
S-EPMC7613262 | biostudies-literature
UnknownMendelian gene identification through mouse embryo viability screening.
Not available
S-EPMC9563108 | biostudies-literature
UnknownUse of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Not available
S-EPMC8565085 | biostudies-literature
UnknownFunctional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Not available
S-EPMC10316781 | biostudies-literature
UnknownDiverse ancestry whole-genome sequencing association study identifies <i>TBX5</i> and <i>PTK7</i> as susceptibility genes for posterior urethral valves.
Not available
S-EPMC9512401 | biostudies-literature
UnknownEfficacy and Safety of the mRNA-1273 SARS-CoV-2 Vaccine.
Not available
S-EPMC7787219 | biostudies-literature
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