학술논문
'학술논문'
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1~10
Academic Journal
Blickhäuser, Beryll; Stenton, Sarah L; Neuhofer, Christiane M; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A; McFarland, Robert; Fang, Fang; Morgia, Chiara La; Paquay, Stéphanie; Nassogne, Marie Cécile; Ghezzi, Daniele; Lamperti, Costanza
Periodical
Schwartz, Oliver; Vill, Katharina; Pfaffenlehner, Michelle; Behrens, Max; Weiß, Claudia; Johannsen, Jessika; Friese, Johannes; Hahn, Andreas; Ziegler, Andreas; Illsinger, Sabine; Smitka, Martin; von Moers, Arpad; Kölbel, Heike; Schreiber, Gudrun; Kaiser, Nadja; Wilichowski, Ekkehard; Flotats-Bastardas, Marina; Husain, Ralf A.; Baumann, Matthias; Köhler, Cornelia; Trollmann, Regina; Schwerin-Nagel, Annette; Eisenkölbl, Astrid; Schimmel, Mareike; Fleger, Martin; Kauffmann, Birgit; Wiegand, Gert; Baumgartner, Manuela; Rauscher, Christian; Cirak, Sebahattin; Gläser, Dieter; Bernert, Günther; Hagenacker, Tim; Goldbach, Susanne; Probst-Schendzielorz, Kristina; Lochmüller, Hanns; Müller-Felber, Wolfgang; Schara-Schmidt, Ulrike; Walter, Maggie C.; Kirschner, Janbernd; Pechmann, Astrid
JAMA Pediatrics; June 2024, Vol. 178 Issue: 6 p540-547, 8p
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
Academic Journal
Blickhaeuser, Beryll; Stenton, Sarah L.; Neuhofer, Christiane M.; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A.; McFarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stephanie; Nassogne, Marie Cecile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas; Prokisch, Holger
Academic Journal
Academic Journal
Academic Journal
Academic Journal
Cheng, Hanyin; Gottlieb, Leah; Marchi, Elaine; Kleyner, Robert; Bhardwaj, Puja; Rope, Alan F; Rosenheck, Sarah; Moutton, Sébastien; Philippe, Christophe; Eyaid, Wafaa; Alkuraya, Fowzan S; Toribio, Janet; Mena, Rafael; Prada, Carlos E; Stessman, Holly; Bernier, Raphael; Wermuth, Marieke; Kauffmann, Birgit; Blaumeiser, Bettina; Kooy, R Frank
Human Molecular Genetics; 9/1/2019, Vol. 28 Issue 17, p2900-2919, 20p
Academic Journal
Cheng, Hanyin; Gottlieb, Leah; Marchi, Elaine; Kleyner, Robert; Bhardwaj, Puja; Rope, Alan F; Rosenheck, Sarah; Moutton, Sébastien; Philippe, Christophe; Eyaid, Wafaa; Alkuraya, Fowzan S; Toribio, Janet; Mena, Rafael; Prada, Carlos E; Stessman, Holly; Bernier, Raphael; Wermuth, Marieke; Kauffmann, Birgit; Blaumeiser, Bettina; Kooy, R Frank
Human Molecular Genetics; Mar2020, Vol. 29 Issue 5, p877-878, 2p
Academic Journal
Muona, Mikko; Berkovic, Samuel F.; Dibbens, Leanne M.; Oliver, Karen L.; Maljevic, Snezana; Bayly, Marta A.; Joensuu, Tarja; Canafoglia, Laura; Franceschetti, Silvana; Michelucci, Roberto; Markkinen, Salla; Heron, Sarah E.; Hildebrand, Michael S.; Andermann, Eva; Andermann, Frederick; Gambardella, Antonio; Tinuper, Paolo; Licchetta, Laura; Scheffer, Ingrid E.; Criscuolo, Chiara; Filla, Alessandro; Ferlazzo, Edoardo; Ahmad, Jamil; Ahmad, Adeel; Baykan, Betul; Said, Edith; Topcu, Meral; Riguzzi, Patrizia; King, Mary D.; Ozkara, Cigdem; Andrade, Danielle M.; Engelsen, Bernt A.; Crespel, Arielle; Lindenau, Matthias; Lohmann, Ebba; Saletti, Veronica; Massano, Joao; Privitera, Michael; Espay, Alberto J.; Kauffmann, Birgit; Duchowny, Michael; Moller, Rikke S.; Straussberg, Rachel; Afawi, Zaid; Ben-Zeev, Bruria; Samocha, Kaitlin E.; Daly, Mark J.; Petrou, Steven; Lerche, Holger; Palotie, Aarno; Lehesjoki, Anna-Elina
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[AR] Kauffmann, Birgit
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