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J. Küsel

University of Freiburg

6

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14

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Genetical, clinical and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4

2019 Human Mutation
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The PERIOPTER syndrome (periorificial and ptychotropic erythrokeratoderma): a new Mendelian disorder of cornification

2019 Journal of The European Academy of Dermatology and Venereology
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Extending the phenotypic spectrum associated with mosaicism for GJB2 mutations

2019 British Journal of Dermatology
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