未登录 Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force 罕见病诊断、治疗、研究和教育中远程医疗的应用挑战与机遇：IRDiRC远程医疗任务组的意见领袖访谈 Parisi, Melissa A.; Hartman, Adam L.; Letinturier, Mary Catherine V.; Tataru, Elena-Alexandra; Antoniadou, Victoria; Baynam, Gareth; Bloom, Lara; Crimi, Marco; Della Rocca, Maria G.; Didato, Giuseppe; Douzgou Houge, Sofia; Jonker, Anneliene H.; Kawome, Martina; Mueller, Friederike; O'Brien, James; Dua Puri, Ratna; Ryan, Nuala; Thong, Meow-Keong; Tumiene, Birute; Chen, Faye H. 分享 收藏
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GM1 gangliosidosis type II: Results of a 10-year prospective study D'Souza, Precilla; Farmer, Cristan; Johnston, Jean M.; Han, Sangwoo T.; Adams, David; Hartman, Adam L.; Zein, Wadih; Huryn, Laryssa A.; Solomon, Beth; King, Kelly; Jordan, Christopher P.; Myles, Jennifer; Nicoli, Elena-Raluca; Rothermel, Caroline E.; Algarin, Yoliann Mojica; Huang, Reyna; Quimby, Rachel; Zainab, Mosufa; Bowden, Sarah; Crowell, Anna; Buckley, Ashura; Brewer, Carmen; Regier, Debra S.; Brooks, Brian P.; Acosta, Maria T.; Baker, Eva H.; Vezina, Gilbert; Thurm, Audrey; Tifft, Cynthia J. 分享 收藏
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Research on rare diseases: ten years of progress and challenges at IRDiRC Monaco, Lucia; Zanello, Galliano; Baynam, Gareth; Jonker, Anneliene H.; Julkowska, Daria; Hartman, Adam L.; O'Connor, Daniel; Wang, Chiuhui Mary; Wong-Rieger, Durhane; Pearce, David A. 分享 收藏
NINDS launches network to develop treatments for ultra-rare neurological diseases Schor, Nina F.; Tamiz, Amir P.; Koroshetz, Walter J.; Broome, Ann-Marie; Bachman, Julia L.; Boshoff, Chris; Cordell, Janice; Dhruv, Neel T.; Gubitz, Amelie; Hartman, Adam L.; Koroshetz, Walter J.; Lind, Genevieve E.; Lungu, Codrin I.; Morris, Jill A.; Nuckolls, Glen H.; Rajaram, Shantadurga; Rangarajan, Ranga; Roof, Rebecca A.; Schor, Nina F.; Skiadopoulos, Mario H.; Strunnikova, Natalia; Tamiz, Amir P.; Wong, Ling M.; Wright, Clinton B. 分享 收藏
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A Randomized Trial of Erythropoietin for Neuroprotection in Preterm Infants Juul, Sandra E.; Comstock, Bryan A.; Wadhawan, Rajan; Mayock, Dennis E.; Courtney, Sherry E.; Robinson, Tonya; Ahmad, Kaashif A.; Bendel-Stenzel, Ellen; Baserga, Mariana; LaGamma, Edmund F.; Downey, L. Corbin; Rao, Raghavendra; Fahim, Nancy; Lampland, Andrea; Frantz, Ivan D., III; Khan, Janine Y.; Weiss, Michael; Gilmore, Maureen M.; Ohls, Robin K.; Srinivasan, Nishant; Perez, Jorge E.; McKay, Victor; Vu, Phuong T.; Lowe, Jean; Kuban, Karl; O'Shea, T. Michael; Hartman, Adam L.; Heagerty, Patrick J. 分享 收藏
Cerebral Ketones Detected by 3T MR Spectroscopy in Patients with High-Grade Glioma on an Atkins-Based Diet Berrington, A.; Schreck, K. C.; Barron, B. J.; Blair, L.; Lin, D. D. M.; Hartman, A. L.; Kossoff, E.; Easter, L.; Whitlow, C. T.; Jung, Y.; Hsu, F-C; Cervenka, M. C.; Blakeley, J. O.; Barker, P. B.; Strowd, R. E. 分享 收藏
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Regional and Socioeconomic Distribution, Healthcare Utilization, and In-Hospital Mortality of Heart Transplantation Newman, J.; Mullan, C.; Geib, M.; Stevens, G.; Majure, D.; Hussain, S.; Fernandez, H.; Hartman, A.; Lima, B. 分享 收藏
Discovering translational biomarkers in neurodevelopmental disorders Sahin, Mustafa; Jones, Stephanie R.; Sweeney, John A.; Berry-Kravis, Elizabeth; Connors, Barry W.; Ewen, Joshua B.; Hartman, Adam L.; Levin, April R.; Potter, William Z.; Mamounas, Laura A. 分享 收藏
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect Metz, Kyle A.; Teng, Xinchen; Coppens, Isabelle; Lamb, Heather M.; Wagner, Bart E.; Rosenfeld, Jill A.; Chen, Xianghui; Zhang, Yu; Kim, Hee Jong; Meadow, Michael E.; Wang, Tim Sen; Haberlandt, Edda D.; Anderson, Glenn W.; Leshinsky-Silver, Esther; Bi, Weimin; Markello, Thomas C.; Pratt, Marsha; Makhseed, Nawal; Garnica, Adolfo; Danylchuk, Noelle R.; Burrow, Thomas A.; Jayakar, Parul; McKnight, Dianalee; Agadi, Satish; Gbedawo, Hatha; Stanley, Christine; Alber, Michael; Prehl, Isabelle; Peariso, Katrina; Ong, Min Tsui; Mordekar, Santosh R.; Parker, Michael J.; Crooks, Daniel; Agrawal, Pankaj B.; Berry, Gerard T.; Loddenkemper, Tobias; Yang, Yaping; Maegawa, Gustavo H. B.; Aouacheria, Abdel; Markle, Janet G.; Wohlschlegel, James A.; Hartman, Adam L.; Hardwick, J. Marie 分享 收藏
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Abusive Head Trauma and Mortality-An Analysis From an International Comparative Effectiveness Study of Children With Severe Traumatic Brain Injury 虐待性头部外伤和死亡率-来自严重颅脑损伤儿童的国际比较有效性研究的分析 Ferguson, Nikki Miller; Sarnaik, Ajit; Miles, Darryl; Shafi, Nadeem; Peters, Mark J.; Truemper, Edward; Vavilala, Monica S.; Bell, Michael J.; Wisniewski, Stephen R.; Luther, James F.; Hartman, Adam L.; Kochanek, Patrick M. 分享 收藏
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Phase I/II multicenter ketogenic diet study for adult superrefractory status epilepticus Cervenka, Mackenzie C.; Hocker, Sara; Koenig, Matthew; Bar, Barak; Henry-Barron, Bobbie; Kossoff, Eric H.; Hartman, Adam L.; Probasco, John C.; Benavides, David R.; Venkatesan, Arun; Hagen, Eliza C.; Dittrich, Denise; Stern, Tracy; Radzik, Batya; Depew, Marie; Caserta, Filissa M.; Nyquist, Paul; Kaplan, Peter W.; Geocadin, Romergryko G. 分享 收藏
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