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Documents Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

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Documents NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of...

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Documents Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients

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Documents Minimal Residual Disease in Acute Lymphoblastic Leukemia: Current Practice and Future Directions

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