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PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic SpectrumNeurology Genetics, 2021, 7 (6), pp.e613. ⟨10.1212/nxg.0000000000000613⟩
Article dans une revue
hal-03881856v1
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Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnosesEuropean Journal of Medical Genetics, 2017, 60 (11), pp.595 - 604. ⟨10.1016/j.ejmg.2017.08.011⟩
Article dans une revue
hal-01626052v1
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