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    • Guidelines & consensus (WG11)
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    • Documentation for patients
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Home > Our Research Activities > List Of Publications > Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort

Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort

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Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome
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