未登录 Pediatric Spinal Muscular Atrophy Patients Treated With Nusinersen: Experience From a Tertiary Referral Center in Turkey 土耳其三级转诊中心应用nusinersen治疗儿童脊髓性肌萎缩患者的经验 Yildiz, Sibel Oz; Bulut, Numan; Alemdaroglu-Gurbuz, Ipek; Debbag, Sehend; Gocmen, Rahsan; Gulsen, Hayriye Hizarcioglu; Ozcelik, Ugur; Demirkiran, Gokhan; Kanbak, Meral; Tunca, Oznur; Yazici, Muharrem; Haliloglu, Goknur 分享 收藏
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TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies Kalanithy, Jeshurun C.; Mingardo, Enrico; Stegmann, Jil D.; Dhakar, Ramgopal; Dakal, Tikam Chand; Rosenfeld, Jill A.; Tan, Wen-Hann; Coury, Stephanie A.; Woerner, Audrey C.; Sebastian, Jessica; Levy, Paul A.; Fleming, Leah R.; Waffenschmidt, Lea; Lindenberg, Tobias T.; Yilmaz, Oeznur; Channab, Khadija; Babra, Bimaljeet K.; Christ, Andrea; Eiberger, Britta; Hoelzel, Selina; Vidic, Clara; Haeberlein, Felix; Ishorst, Nina; Rodriguez-Gatica, Juan E.; Pezeshkpoor, Behnaz; Kupczyk, Patrick A.; Vanakker, Olivier M.; Loddo, Sara; Novelli, Antonio; Dentici, Maria L.; Becker, Albert; Thiele, Holger; Posey, Jennifer E.; Lupski, James R.; Hilger, Alina C.; Reutter, Heiko M.; Merz, Waltraut M.; Dworschak, Gabriel C.; Odermatt, Benjamin 分享 收藏
Role of ZFHX4 in orofacial clefting based on human genetic data and zebrafish models Ishorst, Nina; Hoelzel, Selina; Greve, Carola; Yilmaz, Oeznur; Lindenberg, Tobias; Lambertz, Jessica; Drichel, Dmitriy; Zametica, Berina; Mingardo, Enrico; Kalanithy, Jeshurun C.; Channab, Khadija; Kibris, Duygu; Henne, Sabrina; Degenhardt, Franziska; Siewert, Anna; Dixon, Michael; Kruse, Teresa; Ongkosuwito, Edwin; Girisha, Katta M.; Pande, Shruti; Nowak, Stefanie; Hagelueken, Gregor; Geyer, Matthias; Carels, Carine; van Rooij, Iris A. L. M.; Ludwig, Kerstin U.; Odermatt, Benjamin; Mangold, Elisabeth 分享 收藏
EZH2 specifically regulates ISL1 during embryonic urinary tract formation Mingardo, Enrico; Kalanithy, Jeshurun C.; Dworschak, Gabriel; Ishorst, Nina; Yilmaz, Oeznur; Lindenberg, Tobias; Hollstein, Ronja; Felger, Tim; Angrand, Pierre-Olivier; Reutter, Heiko; Odermatt, Benjamin 分享 收藏
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems Kolvenbach, Caroline M.; Felger, Tim; Schierbaum, Luca; Thiffault, Isabelle; Pastinen, Tomi; Szczepanska, Maria; Zaniew, Marcin; Adamczyk, Piotr; Bayat, Allan; Yilmaz, Oeznur; Lindenberg, Tobias T.; Thiele, Holger; Hildebrandt, Friedhelm; Hinderhofer, Katrin; Moog, Ute; Hilger, Alina C.; Sullivan, Bonnie; Bartik, Lauren; Gnys, Piotr; Grote, Phillip; Odermatt, Benjamin; Reutter, Heiko M.; Dworschak, Gabriel C. 分享 收藏
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies Dworschak, Gabriel C.; Punetha, Jaya; Kalanithy, Jeshurun C.; Mingardo, Enrico; Erdem, Haktan B.; Akdemir, Zeynep C.; Karaca, Ender; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M.; Jhangiani, Shalini N.; Hunter, Jill V.; Dakal, Tikam Chand; Dhabhai, Bhanupriya; Dabbagh, Omar; Alsaif, Hessa S.; Alkuraya, Fowzan S.; Maroofian, Reza; Houlden, Henry; Efthymiou, Stephanie; Dominik, Natalia; Salpietro, Vincenzo; Sultan, Tipu; Haider, Shahzad; Bibi, Farah; Thiele, Holger; Hoefele, Julia; Riedhammer, Korbinian M.; Wagner, Matias; Guella, Ilaria; Demos, Michelle; Keren, Boris; Buratti, Julien; Charles, Perrine; Nava, Caroline; Heron, Delphine; Heide, Solveig; Valkanas, Elise; Waddell, Leigh B.; Jones, Kristi J.; Oates, Emily C.; Cooper, Sandra T.; MacArthur, Daniel; Syrbe, Steffen; Ziegler, Andreas; Platzer, Konrad; Okur, Volkan; Chung, Wendy K.; O'Shea, Sarah A.; Alcalay, Roy; Fahn, Stanley; Mark, Paul R.; Guerrini, Renzo; Vetro, Annalisa; Hudson, Beth; Schnur, Rhonda E.; Hoganson, George E.; Burton, Jennifer E.; McEntagart, Meriel; Lindenberg, Tobias; Yilmaz, Oeznur; Odermatt, Benjamin; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R.; Reutter, Heiko 分享 收藏
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CNS myelin protein 36K regulates oligodendrocyte differentiation through Notch Nagarajan, Bhuvaneswari; Harder, Alexander; Japp, Anna; Haeberlein, Felix; Mingardo, Enrico; Kleinert, Henning; Yilmaz, Oeznur; Zoons, Angelika; Rau, Birgit; Christ, Andrea; Kubitscheck, Ulrich; Eiberger, Britta; Sandhoff, Roger; Eckhardt, Matthias; Hartmann, Dieter; Odermatt, Benjamin 分享 收藏
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction Kolvenbach, Caroline M.; Dworschak, Gabriel C.; Frese, Sandra; Japp, Anna S.; Schuster, Peggy; Wenzlitschke, Nina; Yilmaz, Oeznur; Lopes, Filipa M.; Pryalukhin, Alexey; Schierbaum, Luca; van der Zanden, Loes F. M.; Kause, Franziska; Schneider, Ronen; Taranta-Janusz, Katarzyna; Szczepanska, Maria; Pawlaczyk, Krzysztof; Newman, William G.; Beaman, Glenda M.; Stuart, Helen M.; Cervellione, Raimondo M.; Feitz, Wouter F. J.; van Rooij, Iris A. L. M.; Schreuder, Michiel F.; Steffens, Martijn; Weber, Stefanie; Merz, Waltraut M.; Feldkoetter, Markus; Hoppe, Bernd; Thiele, Holger; Altmueller, Janine; Berg, Christoph; Kristiansen, Glen; Ludwig, Michael; Reutter, Heiko; Woolf, Adrian S.; Hildebrandt, Friedhelm; Grote, Phillip; Zaniew, Marcin; Odermatt, Benjamin; Hilger, Alina C. 分享 收藏
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ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development Zhang, Rong; Knapp, Michael; Suzuki, Kentaro; Kajioka, Daiki; Schmidt, Johanna M.; Winkler, Jonas; Yilmaz, Oeznur; Pleschka, Michael; Cao, Jia; Kockum, Christina Clementson; Barker, Gillian; Holmdahl, Gundela; Beaman, Glenda; Keene, David; Woolf, Adrian S.; Cervellione, Raimondo M.; Cheng, Wei; Wilkins, Simon; Gearhart, John P.; Sirchia, Fabio; Di Grazia, Massimo; Ebert, Anne-Karolin; Roesch, Wolfgang; Ellinger, Joerg; Jenetzky, Ekkehart; Zwink, Nadine; Feitz, Wout F.; Marcelis, Carlo; Schumacher, Johannes; Martinon-Torres, Federico; Hibberd, Martin Lloyd; Khor, Chiea Chuen; Heilmann-Heimbach, Stefanie; Barth, Sandra; Boyadjiev, Simeon A.; Brusco, Alfredo; Ludwig, Michael; Newman, William; Nordenskjold, Agneta; Yamada, Gen; Odermatt, Benjamin; Reutter, Heiko 分享 收藏
N-acetyl Cysteine Treatment Rescues Cognitive Deficits Induced by Mitochondrial Dysfunction in G72/G30 Transgenic Mice Otte, David-Marian; Sommersberg, Britta; Kudin, Alexei; Guerrero, Catalina; Albayram, Oender; Filiou, Michaela D.; Frisch, Pamela; Yilmaz, Oeznur; Drews, Eva; Turck, Christoph W.; Bilkei-Gorzo, Andras; Kunz, Wolfram S.; Beck, Heinz; Zimmer, Andreas 分享 收藏
Behavioral changes in G72/G30 transgenic mice Otte, David M.; Bilkei-Gorzo, Andras; Filiou, Michaela D.; Turck, Christoph W.; Yilmaz, Oeznur; Holst, Martin Ingo; Schilling, Karl; Abou-Jamra, Rami; Schumacher, Johannes; Benzel, Isabel; Kunz, Wolfram S.; Beck, Heinz; Zimmer, Andreas 分享 收藏
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