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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
by Ballin, Nadja (Author)
, Haußer-Siller, Ingrid (Author)
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Human mutation, 40 (2019), 12, Seite 2318-2333
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Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis
by Hotz, Alrun Göntje (Author)
, Bourrat, Emmanuelle (Author)
, Haußer-Siller, Ingrid (Author)
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Human mutation, 39 (2018), 10, Seite 1305-1313
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Klinikum der Universität Heidelberg
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Pathologisches Institut
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Ballin, Nadja
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Bourrat, Emmanuelle
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collodion baby
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ARCI EM type III
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CYP4F22
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NIPAL4
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autosomal recessive congenital ichthyosis (ARCI)
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ichthyosis
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lamellar ichthyosis
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