Search Results - Bruckner-Tuderman, Leena
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1
The status quo of rare diseases centres for the development of a clinical decision support system: a cross-sectional study by Schaaf, Jannik (Author) , Sedlmayr, Martin (Author) , Prokosch, Hans-Ulrich (Author) , Ganslandt, Thomas (Author) , Schade-Brittinger, Carmen (Author) , Wagner, Michael von (Author) , Kadioglu, Dennis (Author) , Schubert, Katharina (Author) , Lee-Kirsch, Min Ae (Author) , Krämer, Bernhard (Author) , Winner, Beate (Author) , Mueller, Tobias (Author) , Schäfer, Jürgen R. (Author) , Wagner, Thomas O. F. (Author) , Bruckner-Tuderman, Leena (Author) , Tüscher, Oliver (Author) , Boeker, Martin (Author) , Storf, Holger (Author) ,
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2
Die Bedeutung von Wissenschaftlichkeit für das Medizinstudium und die Promotion by Baum, Christopher (Author) , Blomberg, Richard (Author, Editor) , Breuer, Constanze (Author, Editor) , Bruckner-Tuderman, Leena (Author) , Frosch, Matthias (Author) , Grüters-Kieslich, Annette (Author) , Hahn, Petra (Author) , Happe, Kathrin (Author, Editor) , Krieg, Thomas (Author) , Kroemer, Heyo Klaus (Author) , Lohse, Martin (Author) , Rösen-Wolff, Angela (Author) , Siegmund, Britta (Author) , Wissing, Frank (Author) ,
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3
Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect by Nyström, Alexander (Author) , Buttgereit, Jens (Author) , Bader, Michael (Author) , Shmidt, Tatiana (Author) , Özcelik, Cemil (Author) , Haußer-Siller, Ingrid (Author) , Bruckner-Tuderman, Leena (Author) , Kern, Johannes S. (Author) ,
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4
Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity by Pigors, Manuela (Author) , Kiritsi, Dimitra (Author) , Krümpelmann, Sebastian (Author) , Wagner, Nicola (Author) , He, Yinghong (Author) , Podda, Maurizio (Author) , Kohlhase, Jürgen (Author) , Haußer-Siller, Ingrid (Author) , Bruckner-Tuderman, Leena (Author) , Has, Cristina (Author) ,
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5
Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a missense mutation in the COL7A1 gene by Winberg, Jan-Olof (Author) , Hammami-Hauasli, Nadja (Author) , Nilssen, Øivind (Author) , Anton-Lamprecht, Ingrun (Author) , Naylor, Susan L. (Author) , Kerbacher, Karen (Author) , Zimmermann, Mirjam (Author) , Krajci, Peter (Author) , Gedde-Dahl, Tobias (Author) , Bruckner-Tuderman, Leena (Author) ,
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6
A combination of a common splice site mutation and frameshift mutation in the COL7A1 gene: absence of functional collagen VII in keratinocytes and skin by Hammami Hauasli, Nadja (Author) , Ulrike Kalinke, D. (Author) , Schumann, Hauke (Author) , Kalinke, Ulrich (Author) , Pontz, Bertram F. (Author) , Anton-Lamprecht, Ingrun (Author) , Pulkkinen, Leena (Author) , Zimmermann, Mirjam (Author) , Uitto, Jouni (Author) , Bruckner-Tuderman, Leena (Author) ,
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7
Biochemical, molecular and ultrastructural heterogeneity in severe generalized mutilating recessive dystrophic epidermolysis bullosa hallopeau-siemens by Winberg, Jan-Olof (Author) , Anton-Lamprecht, Ingrun (Author) , König, A. (Author) , Bruckner-Tuderman, Leena (Author) , Nilssen, Odd (Author) , Gedde-Dahl, Tobias (Author) ,
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Related Subjects
Animals
Base Sequence
Blisters
Codon, Nonsense
Collagens
Dermis
Epidermolysis Bullosa
Fatal Outcome
Female
Glycine
Heterozygosity
Homozygosity
Humans
Infant, Newborn
Mice
Molecular Sequence Data
Serine proteases
Skin
Substitution mutation
anchoring fibrils
basement membrane
bullous diseases
gamma Catenin
recessive dystrophic epidermolysis bullosa