未登录Comparison of the ABC and ACMG systems for variant classification
Houge, Gunnar; Bratland, Eirik; Aukrust, Ingvild; Tveten, Kristian; Zukauskaite, Gabriele; Sansovic, Ivona; Brea-Fernandez, Alejandro J.; Mayer, Karin; Paakkola, Teija; McKenna, Caoimhe; Wright, William; Markovic, Milica Keckarevic; Lildballe, Dorte L.; Konecny, Michal; Smol, Thomas; Alhopuro, Pia; Gouttenoire, Estelle Arnaud; Obeid, Katharina; Todorova, Albena; Jankovic, Milena; Lubieniecka, Joanna M.; Stojiljkovic, Maja; Buisine, Marie-Pierre; Haukanes, Bjorn Ivar; Lorans, Marie; Roomere, Hanno; Petit, Francois M.; Haanpaa, Maria K.; Beneteau, Claire; Perez, Belen; Plaseska-Karanfilska, Dijana; Rath, Matthias; Fuhrmann, Nico; Ferreira, Bibiana I.; Stephanou, Coralea; Sjursen, Wenche; Maver, Ales; Rouzier, Cecile; Chirita-Emandi, Adela; Goncalves, Joao; Kuek, Wei Cheng David; Broly, Martin; Haer-Wigman, Lonneke; Thong, Meow-Keong; Tae, Sok-Kun; Hyblova, Michaela; den Dunnen, Johan T.; Laner, Andreas .png)
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收藏分享 收藏 分享 收藏 分享 收藏 Phase I study of vinblastine in combination with nilotinib in children, adolescents, and young adults with refractory or recurrent low-grade glioma长春碱联合尼洛替尼治疗儿童、青少年和年轻成人难治性或复发性低级别胶质瘤的I期研究Vairy, Stephanie; Le Teuff, Gwenael; Bautista, Francisco; De Carli, Emilie; Bertozzi, Anne-Isabelle; Pagnier, Anne; Fouyssac, Fanny; Nysom, Karsten; Aerts, Isabelle; Leblondt, Pierre; Millot, Frederic; Berger, Claire; Canale, Sandra; Paci, Angelo; Poinsignon, Vianney; Chevance, Aurelie; Ezzalfani, Monia; Vidaud, Dominique; Di Giannatale, Angela; Hladun-Alvaro, Raquel; Petit, Francois M.; Vassal, Gilles; Geoerger, Birgit; Le Deleyt, Marie-Cecile; Grill, Jacques 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairmentIII型糖原生成 (GSDIII)，脱支酶缺乏症的肌肉活检的深层形态学分析，揭示了刻板的空泡性肌病和自噬障碍Laforet, Pascal; Inoue, Michio; Goillot, Evelyne; Lefeuvre, Claire; Cagin, Umut; Streichenberger, Nathalie; Leonard-Louis, Sarah; Brochier, Guy; Madelaine, Angeline; Labasse, Clemence; Hedberg-Oldfors, Carola; Krag, Thomas; Jauze, Louisa; Fabregue, Julien; Labrune, Philippe; Milisenda, Jose; Nadaj-Pakleza, Aleksandra; Sacconi, Sabrina; Mingozzi, Federico; Ronzitti, Giuseppe; Petit, Francois; Schoser, Benedikt; Oldfors, Anders; Vissing, John; Romero, Norma B.; Nishino, Ichizo; Malfatti, Edoardo 分享 收藏 Regenerative cell therapy for the treatment of hyperbilirubinemic Gunn rats with fresh and frozen human induced pluripotent stem cells-derived hepatic stem cells新鲜和冷冻人诱导多能干细胞来源的肝干细胞治疗高胆红素Gunn大鼠的再生细胞疗法Fourrier, Angelique; Delbos, Frederic; Menoret, Severine; Collet, Camille; Linh Trinh Thi Thuy; Myara, Anne; Petit, Francois; Tolosa, Laia; Laplanche, Sophie; Jose Gomez-Lechon, Maria; Labrune, Philippe; Anegon, Ignacio; Vallier, Ludovic; Garnier, Delphine; Tuan Huy Nguyen 分享 收藏 Clinical heterogeneity and phenotype/genotype findings in 5 families with &ITGYG1&IT deficiencyBen Yaou, Rabah; Hubert, Aurelie; Nelson, Isabelle; Dahlqvist, Julia R.; Gaist, David; Streichenberger, Nathalie; Beuvin, Maud; Krahn, Martin; Petiot, Philippe; Parisot, Frederic; Michel, Fabrice; Malfatti, Edoardo; Romero, Norma; Carlier, Robert Yves; Eymard, Bruno; Labrune, Philippe; Duno, Morten; Krag, Thomas; Cerino, Mathieu; Bartoli, Marc; Bonne, Gisele; Vissing, John; Laforet, Pascal; Petit, Francois M. 分享 收藏 Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIaDecostre, Valerie; Laforet, Pascal; De Antonio, Marie; Kachetel, Kahina; Canal, Aurelie; Ollivier, Gwenn; Nadaj-Pakleza, Aleksandra; Petit, Francois M.; Wahbi, Karim; Fayssoil, Abdallah; Eymard, Bruno; Behin, Anthony; Labrune, Philippe; Hogrel, Jean-Yves 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Multiple Phenotypes in Phosphoglucomutase 1 Deficiency磷酸葡萄糖变现酶1缺乏症的多种表型Tegtmeyer, L. C.; Rust, S.; van Scherpenzeel, M.; Ng, B. G.; Losfeld, M. -E.; Timal, S.; Raymond, K.; He, P.; Ichikawa, M.; Veltman, J.; Huijben, K.; Shin, Y. S.; Sharma, V.; Adamowicz, M.; Lammens, M.; Reunert, J.; Witten, A.; Schrapers, E.; Matthijs, G.; Jaeken, J.; Rymen, D.; Stojkovic, T.; Laforet, P.; Petit, F.; Aumaitre, O.; Czarnowska, E.; Piraud, M.; Podskarbi, T.; Stanley, C. A.; Matalon, R.; Burda, P.; Seyyedi, S.; Debus, V.; Socha, P.; Sykut-Cegielska, J.; van Spronsen, F.; de Meirleir, L.; Vajro, P.; DeClue, T.; Ficicioglu, C.; Wada, Y.; Wevers, R. A.; Vanderschaeghe, D.; Callewaert, N.; Fingerhut, R.; van Schaftingen, E.; Freeze, H. H.; Morava, E.; Lefeber, D. J.; Marquardt, T. 分享 收藏 Fat and Carbohydrate Metabolism During Exercise in Phosphoglucomutase Type 1 DeficiencyPreisler, Nicolai; Laforet, Pascal; Echaniz-Laguna, Andoni; Orngreen, Mette C.; Lonsdorfer-Wolf, Evelyne; Doutreleau, Stephane; Geny, Bernard; Stojkovic, Tanya; Piraud, Monique; Petit, Francois M.; Vissing, John 分享 收藏 Exercise intolerance in Glycogen Storage Disease Type III: Weakness or energy deficiency?Preisler, Nicolai; Pradel, Agnes; Husu, Edith; Madsen, Karen Lindhardt; Becquemin, Marie-Helene; Mollet, Alix; Labrune, Philippe; Petit, Francois; Hogrel, Jean-Yves; Jardel, Claude; Maillot, Francois; Vissing, John; Laforet, Pascal 分享 收藏 分享 收藏 
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