Search Results - Fischer, Judith

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  1. 1
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    Immunoprofiling to guide treatment decision in SAM syndrome by Bochnig, Olivia (Author) , Giese, Thomas (Author) , Fischer, Judith (Author) , Komlosi, Katalin (Author) , Mihalceanu, Silvia (Author) , Ott, Hagen (Author) , Schäkel, Knut (Author) ,


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  2. 2
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    Autosomal dominant lamellar ichthyosis due to a missense variant in the gene NKPD1 by Komlosi, Katalin (Author) , Glocker, Cristina (Author) , Hsu-Rehder, Hao-Hsiang (Author) , Alter, Svenja (Author) , Kopp, Julia (Author) , Hotz, Alrun (Author) , Zimmer, Andreas David (Author) , Haußer-Siller, Ingrid (Author) , Sandhoff, Roger (Author) , Oji, Vinzenz (Author) , Fischer, Judith (Author) ,


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  3. 3
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    Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis by Drerup, Lisanne (Author) , Süßmuth, Kira (Author) , Komlosi, K. (Author) , Kopp, J. (Author) , Drerup, C. (Author) , Metze, D. (Author) , Traupe, Heiko (Author) , Haußer-Siller, Ingrid (Author) , Eckl, K. M. (Author) , Hennies, H. C. (Author) , Fischer, Judith (Author) , Oji, V. (Author) ,


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  4. 4
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    Fatal neonatal DOLK-CDG as a rare form of syndromic ichthyosis by Komlosi, Katalin (Author) , Claris, Olivier (Author) , Collardeau-Frachon, Sophie (Author) , Kopp, Julia (Author) , Haußer-Siller, Ingrid (Author) , Mazereeuw-Hautier, Juliette (Author) , Jonca, Nathalie (Author) , Zimmer, Andreas D. (Author) , Sanlaville, Damien (Author) , Fischer, Judith (Author) ,


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  5. 5
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    The BAF complex interacts with Pax6 in adult neural progenitors to establish a neurogenic cross-regulatory transcriptional network by Ninković, Jovica (Author) , Steiner-Mezzadri, Andrea (Author) , Jawerka, Melanie (Author) , Akinci, Umut (Author) , Masserdotti, Giacomo (Author) , Petricca, Stefania (Author) , Fischer, Judith (Author) , Holst, Alexander von (Author) , Beckers, Johanes (Author) , Lie, Chichung D. (Author) , Petrik, David (Author) , Miller, Erik (Author) , Tang, Jiong (Author) , Wu, Jiang (Author) , Lefebvre, Veronique (Author) , Demmers, Jeroen (Author) , Eisch, Amelia (Author) , Metzger, Daniel (Author) , Crabtree, Gerald (Author) , Irmler, Martin (Author) , Poot, Raymond (Author) , Götz, Magdalena (Author) ,


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  6. 6
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    PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans by Grall, Anaïs (Author) , Haußer-Siller, Ingrid (Author) , Thomas, Anne (Author) , Fontaine, Jacques (Author) , Pin, Didier (Author) , Zimmermann, Robert (Author) , André, Catherine (Author) , Fischer, Judith (Author) ,


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  7. 7
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    Mutations in CSTA, encoding cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion by Blaydon, Diana C. (Author) , Nitoiu, Daniela (Author) , Eckl, Katja-Martina (Author) , Cabral, Rita M. (Author) , Bland, Philip (Author) , Haußer-Siller, Ingrid (Author) , van Heel, David A. (Author) , Rajpopat, Shefali (Author) , Fischer, Judith (Author) , Oji, Vinzenz (Author) , Zvulunov, Alex (Author) , Traupe, Heiko (Author) , Hennies, Hans Christian (Author) , Kelsell, David P. (Author) ,


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  8. 8
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    Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis consensus conference in Sorèze 2009 by Oji, Vinzenz (Author) , Tadini, Gianluca (Author) , Akiyama, Masashi (Author) , Blanchet Bardon, Claudine (Author) , Bodemer, Christine (Author) , Bourrat, Emmanuelle (Author) , Coudiere, Philippe (Author) , DiGiovanna, John J. (Author) , Elias, Peter (Author) , Fischer, Judith (Author) , Fleckman, Philip (Author) , Gina, Michal (Author) , Harper, John (Author) , Hashimoto, Takashi (Author) , Haußer-Siller, Ingrid (Author) , Hennies, Hans Christian (Author) , Hohl, Daniel (Author) , Hovnanian, Alain (Author) , Ishida-Yamamoto, Akemi (Author) , Jacyk, Witold K. (Author) , Leachman, Sancy (Author) , Leigh, Irene (Author) , Mazereeuw-Hautier, Juliette (Author) , Milstone, Leonard (Author) , Morice-Picard, Fanny (Author) , Paller, Amy S. (Author) , Richard, Gabriele (Author) , Schmuth, Matthias (Author) , Shimizu, Hiroshi (Author) , Sprecher, Eli (Author) , Van Steensel, Maurice (Author) , Taïeb, Alain (Author) , Toro, Jorge R. (Author) , Vabres, Pierre (Author) , Vahlquist, Anders (Author) , Williams, Mary (Author) , Traupe, Heiko (Author) ,


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