학술논문
'학술논문'
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1~10
Academic Journal
Bhattacharya, Kaustuv; Balasubramaniam, Shanti; Murray, Kevin; Peters, Heidi; Ketteridge, David; Inwood, Anita; Lee, Joy; Ellaway, Carolyn; Owens, Penny; Wong, Melanie; Ly, Christine; McGill, Jim
Journal of Inborn Errors of Metabolism and Screening. January 2020 8
Academic Journal
Journal of Sports Medicine and Allied Health Sciences: Official Journal of the Ohio Athletic Trainers' Association, Vol 5, Iss 2 (2019)
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)
Severely impaired CTL killing is a feature of the neurological disorder Niemann-Pick disease type C1
Academic Journal
Castiblanco, Daniela ; Rudd-Schmidt, Jesse A. ; Noori, Tahereh; Sutton, Vivien R.; Hung, Ya Hui; Flinsenberg, Thijs W.H.; Hodel, Adrian W.; Young, Neil D.; Smith, Nicholas; Bratkovic, Drago; Peters, Heidi; Walterfang, Mark; Trapani, Joseph A.; Brennan, Amelia J.; Voskoboinik, Ilia
In Blood 24 March 2022 139(12):1833-1849
Academic Journal
Hastings, Caroline A.; Goker-Alpan, Ozlem; Pena, Loren; Bayarri, Jordi Gascon; Martin-Hernandez, Elena; Sharma, Reena; Chacham, Orna Staretz; Spiegel, Ronen; Mengel, Eugen; Walterfang, Mark; Peters, Heidi; Fung, Victor S.; Kiec-Wilk, Beata; Smith, Nicholas; Giugliani, Roberto; Guelbert, Norberto; Ezgu, Fatih; Ucar, Sema Kalkan; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph
In Molecular Genetics and Metabolism February 2024 141(2)
Academic Journal
Case, Laura E.; Bjartmar, Carl; Morgan, Claire; Casey, Robin; Charrow, Joel; Clancy, John P.; Dasouki, Majed; DeArmey, Stephanie; Nedd, Khan; Nevins, Mary; Peters, Heidi; Phillips, Dawn; Spigelman, Zachary; Tifft, Cynthia; Kishnani, Priya S.
In Neuromuscular Disorders April 2015 25(4):321-332
Academic Journal
Zori, Roberto; Lah, Melissa; Offord, Staphanie; Lund, Allan; Opladen, Thomas; Peters, Heidi; Guilder, Laura; Ezgu, Faith; Breilyn, Margo Sheck; Manti, Filippo; del Carmen Cabrales Guerra, Ixiu; Ingalls, Kimberly; Zhao, Zhenming; Larkin, Alexandra; Hughes, Catalina; Somera-Molina, Kathleen; Smith, Neil; Longo, Nicola
Academic Journal
In Journal of Clinical Neuroscience October 2014 21(10):1815-1817
Woodcock, Ian R.; Menezes, Manoj P.; Coleman, Lee; Yaplito-Lee, Joy; Peters, Heidi; White, Susan M.; Stapleton, Rachel; Phelan, Dean G.; Chong, Belinda; Lunke, Sebastian; Stark, Zornitza; Pitt, James; Ryan, Monique M.; Robertson, Colin; Yiu, Eppie M.
In Seminars in Pediatric Neurology July 2018 26:2-9
Academic Journal
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[AR] Peters, Heidi
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