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    • Guidelines & consensus (WG11)
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    • ERN ITHACA Guidelines
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    • Documentation for patients
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Home > Our Research Activities > List Of Publications > Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy
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