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收藏Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function
Kurth, Ingo; Thompson, Debra A.; Ruether, Klaus; Feathers, Kecia L.; Chrispell, Jared D.; Schroth, Jana; McHenry, Christina L.; Schweizer, Michaela; Skosyrski, Sergej; Gal, Andreas; Huebner, Christian A. 分享 收藏 Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotypeAzevedo, Olga; Gal, Andreas; Faria, Rui; Gaspar, Paulo; Miltenberger-Miltenyi, Gabriel; Gago, Miguel F.; Dias, Fatima; Martins, Alice; Rodrigues, Jorge; Reimao, Pedro; Pereira, Olga; Simoes, Sonia; Lopes, Emilia; Guimaraes, Maria Jose; Sousa, Nuno; Cunha, Damiao 分享 收藏 分享 收藏 Radiosensitization of NSCLC cells by EGFR inhibition is the result of an enhanced p53-dependent G1 arrestEGFR抑制对NSCLC细胞的放射增敏作用是增强p53-dependent G1期阻滞的结果Kriegs, Malte; Gurtner, Kristin; Can, Yildiz; Brammer, Ingo; Rieckmann, Thorsten; Oertel, Reinhai. D.; Wysocki, Marek; Dorniok, Franziska; Gal, Andreas; Grob, Tobias J.; Laban, Simon; Kasten-Pisula, Ulla; Petersen, Cordula; Baumann, Michael; Krause, Mechthild; Dikomey, Ekkehard 分享 收藏 OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)Thoenes, Michaela; Zimmermann, Ulrike; Ebermann, Inga; Ptok, Martin; Lewis, Morag A.; Thiele, Holger; Morlot, Susanne; Hess, Markus M.; Gal, Andreas; Eisenberger, Tobias; Bergmann, Carsten; Nuernberg, Gudrun; Nuernberg, Peter; Steel, Karen P.; Knipper, Marlies; Bolz, Hanno Joern 分享 收藏 Pedigree analysis: A call to action to raise awareness of Fabry disease and the importance of family history evaluationKarabul, Nesrin; Bradley, Aoife; Garcia Diaz, Juan de Dios; Figuera, Luis; Gal, Andreas; Giugliani, Roberto; Goker-Alpan, Ozlem; Lavery, Christine; Mehta, Atul; Thompson, Lorraine; Sakai, Norio; Warnock, David G. 分享 收藏 Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3Kornak, Uwe; Mademan, Ines; Schinke, Marte; Voigt, Martin; Krawitz, Peter; Hecht, Jochen; Barvencik, Florian; Schinke, Thorsten; Giesselmann, Sebastian; Beil, F. Timo; Pou-Serradell, Adolf; Vilchez, Juan J.; Beetz, Christian; Deconinck, Tine; Timmerman, Vincent; Kaether, Christoph; De Jonghe, Peter; Huebner, Christian A.; Gal, Andreas; Amling, Michael; Mundlos, Stefan; Baets, Jonathan; Kurth, Ingo 分享 收藏 Sorafenib sensitizes head and neck squamous cell carcinoma cells to ionizing radiationLaban, Simon; Steinmeister, Leonhard; Gleissner, Lisa; Grob, Tobias J.; Grenman, Reidar; Petersen, Cordula; Gal, Andreas; Knecht, Rainald; Dikomey, Ekkehard; Kriegs, Malte 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Ccdc66 null mutation causes retinal degeneration and dysfunctionGerding, Wanda M.; Schreiber, Sabrina; Schulte-Middelmann, Tobias; Marques, Andreia de Castro; Atorf, Jenny; Akkad, Denis A.; Dekomien, Gabriele; Kremers, Jan; Dermietzel, Rolf; Gal, Andreas; Ruelicke, Thomas; Ibrahim, Saleh; Epplen, Joerg T.; Petrasch-Parwez, Elisabeth 分享 收藏 Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing LossSMPX中的无意义突变，编码对物理力有反应的蛋白质，导致X染色体听力损失Huebner, Antje K.; Gandia, Marta; Frommolt, Peter; Maak, Anika; Wicklein, Eva M.; Thiele, Holger; Altmueller, Janine; Wagner, Florian; Vinuela, Antonio; Aguirre, Luis A.; Moreno, Felipe; Maier, Hannes; Rau, Isabella; Giesselmann, Sebastian; Nuernberg, Gudrun; Gal, Andreas; Nuernberg, Peter; Huebner, Christian A.; del Castillo, Ignacio; Kurth, Ingo 分享 收藏 Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease常染色体隐性后小眼畸形是由PRSS56突变引起的，PRSS56是一种编码胰蛋白酶样丝氨酸蛋白酶的基因Gal, Andreas; Rau, Isabella; El Matri, Leila; Kreienkamp, Hans-Juergen; Fehr, Susanne; Baklouti, Karim; Chouchane, Ibtissem; Li, Yun; Rehbein, Monika; Fuchs, Josefine; Fledelius, Hans C.; Vilhelmsen, Kaj; Schorderet, Daniel F.; Munier, Francis L.; Ostergaard, Elsebet; Thompson, Debra A.; Rosenberg, Thomas 分享 收藏 Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis PigmentosaLangmann, Thomas; Di Gioia, Silvio Alessandro; Rau, Isabella; Stoehr, Heidi; Maksimovic, Nela S.; Corbo, Joseph C.; Renner, Agnes B.; Zrenner, Eberhart; Kumaramanickavel, Govindasamy; Karlstetter, Marcus; Arsenijevic, Yvan; Weber, Bernhard H. F.; Gal, Andreas; Rivolta, Carlo 分享 收藏 Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy编码一种新发现的高尔基体蛋白的FAM134B突变会引起严重的感觉和自主神经病变Kurth, Ingo; Pamminger, Torsten; Hennings, J. Christopher; Soehendra, Desiree; Huebner, Antje K.; Rotthier, Annelies; Baets, Jonathan; Senderek, Jan; Topaloglu, Haluk; Farrell, Sandra A.; Nuernberg, Gudrun; Nuernberg, Peter; De Jonghe, Peter; Gal, Andreas; Kaether, Christoph; Timmerman, Vincent; Huebner, Christian A. 分享 收藏 Rdh12 Activity and Effects on Retinoid Processing in the Murine RetinaChrispell, Jared D.; Feathers, Kecia L.; Kane, Maureen A.; Kim, Chul Y.; Brooks, Matthew; Khanna, Ritu; Kurth, Ingo; Huebner, Christian A.; Gal, Andreas; Mears, Alan J.; Swaroop, Anand; Napoli, Joseph L.; Sparrow, Janet R.; Thompson, Debra A. 分享 收藏 分享 收藏 分享 收藏 
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