Search Results - "Alef, Thomas"

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function by Hussain, Muhammad Sajid, Baig, Shahid Mahmood, Neumann, Sascha, Nürnberg, Gudrun, Farooq, Muhammad, Ahmad, Ilyas, Alef, Thomas, Hennies, Hans Christian, Technau, Martin, Altmüller, Janine, Frommolt, Peter, Thiele, Holger, Noegel, Angelika Anna, Nürnberg, Peter

“…Autosomal-recessive primary microcephaly (MCPH) is a rare congenital disorder characterized by intellectual disability, reduced brain and head size, but…”
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Environmental effects on faecal genotyping success in mesocarnivores by Scholz, Lukas G., Tripke, Henriette, Ebert, Cornelia, Alef, Thomas, Kämmerle, Jim-Lino, Storch, Ilse, Bhardwaj, Manisha

“…Non-invasive genetic sampling can be used in research, monitoring, and conservation of wild animals to, for example, provide insights into diets, identify…”
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Full-Thickness Human Skin Models for Congenital Ichthyosis and Related Keratinization Disorders by Eckl, Katja-Martina, Alef, Thomas, Torres, Serena, Hennies, Hans Christian

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Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing by Alef, Thomas, Torres, Serena, Hausser, Ingrid, Metze, Dieter, Türsen, Ümit, Lestringant, Gilles G., Hennies, Hans Christian

“…Congenital ichthyosis encompasses a heterogeneous group of disorders of cornification. Isolated forms and syndromic ichthyosis can be differentiated. We have…”
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