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收藏分享 收藏 分享 收藏 De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset strokeRNF213的De novo变异与从Leigh综合征到早发性中风的临床范围相关
Brunet, Theresa; Zott, Benedikt; Lieftuchter, Victoria; Lenz, Dominic; Schmidt, Axel; Peters, Philipp; Kopajtich, Robert; Zaddach, Malin; Zimmermann, Hanna; Huning, Irina; Ballhausen, Diana; Staufner, Christian; Bianzano, Alyssa; Hughes, Joanne; Taylor, Robert W.; McFarland, Robert; Devlin, Anita; MihaljeviC, Mihaela; Barisic, Nina; Rohlfs, Meino; Wilfling, Sibylle; Sondheimer, Neal; Hewson, Stacy; Marinakis, Nikolaos M.; Kosma, Konstantina; Traeger-Synodinos, Joanne; Elbracht, Miriam; Begemann, Matthias; Trepels-Kottek, Sonja; Hasan, Dimah; Scala, Marcello; Capra, Valeria; Zara, Federico; van der Ven, Amelie T.; Driemeyer, Joenna; Apitz, Christian; Kramer, Johannes; Strong, Alanna; Hakonarson, Hakon; Watson, Deborah; Mayr, Johannes A.; Prokisch, Holger; Meitinger, Thomas; Borggraefe, Ingo; Spiegler, Juliane; Baric, Ivo; Paolini, Marco; Gerstl, Lucia; Wagner, Matias 分享 收藏 Genetic landscape of pediatric acute liver failure of indeterminate originLenz, 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 分享 收藏 Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (vol 25, 100314, 2023)Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroter, 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; Mueller, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Santer, Rene; 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; Wortmannd, Saskia 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Caring for a sick or injured child during the COVID-19 pandemic lockdown in 2020 in the UK: An online survey of parents' experiences英国新型冠状病毒肺炎大流行封锁2020年期间照顾生病或受伤的孩子: 一项关于父母经历的在线调查Neill, Sarah; Carter, Rachel; Jones, Ray; Roland, Damian; Bayes, Natasha; Tavare, Alison; Hughes, Joanne; Turner, Tracy; Chynoweth, Jade; Tan, Chantal; Moll, Henriette; Lakhanpaul, Monica 分享 收藏 Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease酶替代疗法和造血干细胞移植: Wolman病治疗的新范式Potter, Jane E.; Petts, Gemma; Ghosh, Arunabha; White, Fiona J.; Kinsella, Jane L.; Hughes, Stephen; Roberts, Jane; Hodgkinson, Adam; Brammeier, Kathryn; Church, Heather; Merrigan, Christine; Hughes, Joanne; Evans, Pamela; Campbell, Helen; Bonney, Denise; Newman, William G.; Bigger, Brian W.; Broomfield, Alexander; Jones, Simon A.; Wynn, Robert F. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Catalogue of inherited disorders found among the Irish Traveller populationLynch, Sally Ann; Crushell, Ellen; Lambert, Deborah M.; Byrne, Niall; Gorman, Kathleen; King, Mary D.; Green, Andrew; O'Sullivan, Siobhan; Browne, Fiona; Hughes, Joanne; Knerr, Ina; Monavari, Ahmad A.; Cotter, Melanie; McConnell, Vivienne P. M.; Kerr, Bronwyn; Jones, Simon A.; Keenan, Catriona; Murphy, Nuala; Cody, Declan; Ennis, Sean; Turner, Jackie; Irvine, Alan D.; Casey, Jillian 分享 收藏 分享 收藏 Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation studyJones, Simon A.; Rojas-Caro, Sandra; Quinn, Anthony G.; Friedman, Mark; Marulkar, Sachin; Ezgu, Fatih; Zaki, Osama; Gargus, J. Jay; Hughes, Joanne; Plantaz, Dominique; Vara, Roshni; Eckert, Stephen; Arnoux, Jean-Baptiste; Brassier, Anais; Le Quan Sang, Kim-Hanh; Valayannopoulos, Vassili 分享 收藏 Effect of sebelipase alfa on survival to 3 years of age and liver function in infants with rapidly progressive lysosomal acid lipase deficiencyFriedman, Mark; Jones, Simon A.; Brassier, Anais; Hughes, Joanne; Plantaz, Dominique; Vara, Roshni; Breen, Catherine; Gargus, J. Jay; Marulkar, Sachin; Valayannopoulos, Vassili 分享 收藏 Exploring potential mortality reductions in 9 European countries by improving diet and lifestyle: A modelling approach (vol 207, pg 286, 2016)O'Flaherty, M.; Bandosz, P.; Critchley, J.; Capewell, S.; Guzman-Castillo, M.; Aspelund, T.; Bennett, K.; Kabir, Z.; Bjoerck, L.; Bruthans, J.; Hotchkiss, J. W.; Hughes, J.; Laatikainen, T.; Palmieri, L.; Zdrojewski, T. 分享 收藏 
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