학술논문
'학술논문'
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1~10
Academic Journal
Sung, Andrew Y.; Guerra, Rachel M.; Steenberge, Laura H.; Alston, Charlotte L.; Murayama, Kei; Okazaki, Yasushi; Shimura, Masaru; Prokisch, Holger; Ghezzi, Daniele; Torraco, Alessandra; Carrozzo, Rosalba; Roetig, Agnes; Taylor, Robert W.; Keck, James L.; Pagliarini, David J.
Academic Journal
Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, René G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schröter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Müller, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Rötig, Agnès; Santer, René; Scaglia, Fernando; Schiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmann, Saskia
In Genetics in Medicine June 2023 25(6)
Academic Journal
In Perfectionnement en Pédiatrie March 2022 5(1):21-27
Academic Journal
Lenz, Dominic; Schlieben, Lea D.; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Ruediger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E.; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Birute, Burnyte; Calvo, Pier L.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dezsofi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F.; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaclioglu, Ceyda T.; Knoppke, Birgit; Kohl, Martina; Koelbel, Heike; Koelker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloglu, Zarife; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A.; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Mueller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petkovic Ramadza, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnes; Santer, Rene; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W.; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B.; Zakharova, Ekaterina; Hoffmann, Georg F.; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger
Academic Journal
Mercati, Oriane; Abi Warde, Marie-Thérèse; Lina-Granade, Geneviève; Rio, Marlène; Heide, Solveig; de Lonlay, Pascale; Ceballos-Picot, Irène; Robert, Matthieu P.; Couloigner, Vincent; Beltrand, Jacques; Boddaert, Nathalie; Rodriguez, Diana; Rubinato, Elisa; Lapierre, Jean-Michel; Merlette, Christophe; Sanquer, Sylvia; Rötig, Agnès; Prokisch, Holger; Lyonnet, Stanislas; Loundon, Natalie; Kaplan, Josseline; Bonnefont, Jean-Paul; Munnich, Arnold; Besmond, Claude; Jonard, Laurence; Marlin, Sandrine
In European Journal of Medical Genetics November 2020 63(11)
Academic Journal
Lenz, D.; Bianzano, A.; Fichtner, A.; Garbade, S.F.; Kolker, S.; Peters, B.; Hoffmann, G.F.; Staufner, C.; Schlieben, L.D.; Smirnov, D.; Kopajtich, R.; Berutti, R.; Brugger, M.; Brunet, T.; Mayerhanser, K.; Pavlov, M.; Wagner, M.; Meitinger, T.; Prokisch, H.; Shimura, M.; Murayama, K.; Adam, R.; Aldrian, D.; Vogel, G.-F.; Baric, I.; Petkovic Ramadza, D.; Baumann, U.; Junge, N.; Bozbulut, N.E.; Dalgic, B.; Bufler, P.; Henning, S.; Burnyte, B.; Urbonas, V.; Calvo, P.L.; Crushell, E.; Das, A.M.; Dezsofi, A.; Distelmaier, F.; Freisinger, P.; Gaspar, H.; Goujon, L.; Pasquier, L.; Hadzic, N.; Hartleif, S.; Sturm, E.; Hegen, B.; Jankofsky, M.; Santer, R.; Hempel, M.; Hoerning, A.; Kaspar, S.; Houwen, R.; Van Der Woerd, W.; Hughes, J.; Iorio, R.; Iwanicka-Pronicka, K.; Piekutowska-Abramczuk, D.; Kanavaki, I.; Kansu, A.; Kirsaclioglu, C.T.; Kuloglu, Z.; Kathemann, S.; Lainka, E.; Pilic, D.; Kelly, D.; Knoppke, B.; Vermehren, J.; Kohl, M.; Kolbel, H.; Konstantopoulou, V.; Krylova, T.; Semenova, N.; Zakharova, E.; Kuster, A.; Laass, M.W.; Lurz, E.; Mandel, H.; Mayr, J.A.; Wortmann, S.B.; McKiernan, P.; Vockley, J.; McClean, P.; McLin, V.; Rajwal, S.; Rock, N.; Mention, K.; Muller, H.; Pechatnikova, N.; Roetig, A.; Schenk, W.; Sokollik, C.; Taylor, R.W.; Tschiedel, E.; Urreizti, R.
In: Hepatology . (Hepatology, May 2024, 79(5):1075-1087)
Academic Journal
Barcia, Giulia; Rachid, Myriam; Magen, Maryse; Assouline, Zahra; Koenig, Michel; Funalot, Benoit; Barnerias, Christine; Rötig, Agnès; Munnich, Arnold; Bonnefont, Jean-Paul; Steffann, Julie
In European Journal of Medical Genetics August 2018 61(8):455-458
Academic Journal
Mansour-Hendili, L.; Latouche, C.; Funalot, B.; Gitiaux, C.; Schiff, M.; Rötig, A.; Desguerre, I.; Harion, M.; Heron, B.; Stojkovic, T.; Rama, M.; Smol, T.; Sophie Jourdain, A.; Ghoumid, J.; Mention, K.; Nadjar, Y.; Lemale, J.; Gottrand, F.; Talbotec, C.
In: Frontiers in Genetics . (Frontiers in Genetics, 2024, 15)
Academic Journal
Pontoizeau, C.; Ottolenghi, C.; Brassier, A.; Arnoux, J.-B.; de Lonlay, P.; Schiff, M.; Gaborit, C.; Tual, N.; Simon-Sola, M.; Rotaru, I.; Benoist, M.; Rötig, A.; Cavazzana, M.; Colella, P.; Mingozzi, F.; Lamazière, A.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, January 2024, 47(1):41-49)
Academic Journal
Devaux-Bricout, M.; Grévent, D.; Lebre, A.-S.; Rio, M.; Desguerre, I.; De Lonlay, P.; Valayannopoulos, V.; Brunelle, F.; Rötig, A.; Munnich, A.; Boddaert, N.
In Revue Neurologique May 2014 170(5):381-389
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