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Results: 1-2 |
Results: 2
A Mutation in a Skin-Specific Isoform of SMARCAD1 Causes Autosomal-Dominant Adermatoglyphia
Authors: Nousbeck, Janna Burger, Bettina Fuchs-Telem, Dana Pavlovsky, Mor
Citation: Nousbeck, Janna et al., A Mutation in a Skin-Specific Isoform of SMARCAD1 Causes Autosomal-Dominant Adermatoglyphia, American journal of human genetics (Online) AJHG , 89(2), 2011, pp. 302-307
A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis
Authors: Israeli, Shirli Khamaysi, Ziyad Fuchs-Telem, Dana Nousbeck, Janna Sprecher, Eli
Citation: Israeli, Shirli et al., A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis, American journal of human genetics (Online) AJHG , 88(4), 2011, pp. 482-487
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