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    • Guidelines & consensus (WG11)
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    • MOOC “bioinformatics”
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    • Training exchanges
    • Documentation for patients
  • News & Events
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Home > Our Research Activities > List Of Publications > Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness

Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness

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A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops
Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study
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