未登录 Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency Thomas, Huw B.; Demain, Leigh A. M.; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E.; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B.; Olahova, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M.; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N.; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D.; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W.; Munro, Kevin J.; Alkuraya, Fowzan S.; Jamieson, Peter; Ahmed, Zubair M.; Leal, Suzanne M.; Taylor, Robert W.; Wittig, Ilka; O'Keefe, Raymond T.; Newman, William G. 分享 收藏
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault- syndrome-spectrum phenotype Smith, Thomas B.; Kopajtich, Robert; Demain, Leigh A. M.; Rea, Alessandro; Thomas, Huw B.; Schiff, Manuel; Beetz, Christian; Joss, Shelagh; Conway, Gerard S.; Shukla, Anju; Yeole, Mayuri; Radhakrishnan, Periyasamy; Azzouz, Hatem; Ben Chehida, Amel; Elmaleh-Berges, Monique; Glasgow, Ruth I. C.; Thompson, Kyle; Olahova, Monika; He, Langping; Jenkinson, Emma M.; Jahic, Amir; Belyantseva, Inna A.; Barzik, Melanie; Urquhart, Jill E.; O'Sullivan, James; Williams, Simon G.; Bhaskar, Sanjeev S.; Carrera, Samantha; Blakes, Alexander J. M.; Banka, Siddharth; Yue, Wyatt W.; Ellingford, Jamie M.; Houlden, Henry; DDD Study, D. D. D.; Munro, Kevin J.; Friedman, Thomas B.; Taylor, Robert W.; Prokisch, Holger; Keefe, Raymond T.; Newman, William G. 分享 收藏
Metabolomics Simultaneously Derives Benchmark Dose Estimates and Discovers Metabolic Biotransformations in a Rat Bioassay Sostare, Elena; Bowen, Tara J.; Lawson, Thomas N.; Freier, Anne; Li, Xiaojing; Lloyd, Gavin R.; Najdekr, Lukas; Jankevics, Andris; Smith, Thomas; Varshavi, Dorsa; Ludwig, Christian; Colbourne, John K.; Weber, Ralf J. M.; Crizer, David M.; Auerbach, Scott S.; Bucher, John R.; Viant, Mark R. 分享 收藏
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54 Smith, Thomas B.; Rea, Alessandro; Thomas, Huw B.; Thompson, Kyle; Olahova, Monika; Maroofian, Reza; Zamani, Mina; He, Langping; Sadeghian, Saeid; Galehdari, Hamid; Lotan, Nava Shaul; Gilboa, Tal; Herman, Kristin C.; McCorvie, Thomas J.; Yue, Wyatt W.; Houlden, Henry; Taylor, Robert W.; Newman, William G.; O'Keefe, Raymond T. 分享 收藏
Nuclear Magnetic Resonance Spectroscopy Metabolomics in Idiopathic Intracranial Hypertension to Identify Markers of Disease and Headache Grech, Olivia; Seneviratne, Senali Y.; Alimajstorovic, Zerin; Yiangou, Andreas; Mitchell, James L.; Smith, Thomas B.; Mollan, Susan P.; Lavery, Gareth G.; Ludwig, Christian; Sinclair, Alexandra J. 分享 收藏
Clinical value of cell-based assays in the characterisation of seronegative myasthenia gravis Damato, Valentina; Spagni, Gregorio; Monte, Gabriele; Woodhall, Mark; Jacobson, Leslie; Falso, Silvia; Smith, Thomas; Iorio, Raffaele; Waters, Patrick; Irani, Sarosh R.; Vincent, Angela; Evoli, Amelia 分享 收藏
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TREM2 Alzheimer's variant R47H causes similar transcriptional dysregulation to knockout, yet only subtle functional phenotypes in human iPSC-derived macrophages Hall-Roberts, Hazel; Agarwal, Devika; Obst, Juliane; Smith, Thomas B.; Monzon-Sandoval, Jimena; Di Daniel, Elena; Webber, Caleb; James, William S.; Mead, Emma; Davis, John B.; Cowley, Sally A. 分享 收藏
Brief O2 uploading during continuous hypothermic machine perfusion is simple yet effective oxygenation method to improve initial kidney function in a porcine autotransplant model Darius, Tom; Vergauwen, Martial; Smith, Thomas; Gerin, Isabelle; Joris, Virginie; Mueller, Matteo; Aydin, Selda; Muller, Xavier; Schlegel, Andrea; Nath, Jay; Ludwig, Christian; Dessy, Chantal; Many, Marie-Christine; Bommer, Guido; Dutkowski, Philipp; Gianello, Pierre; Mourad, Michel 分享 收藏
Influence of Different Partial Pressures of Oxygen During Continuous Hypothermic Machine Perfusion in a Pig Kidney Ischemia-reperfusion Autotransplant Model Darius, Tom; Vergauwen, Martial; Smith, Thomas B.; Patel, Kamlesh; Craps, Julie; Joris, Virginie; Aydin, Selda; Ury, Benoit; Buemi, Antoine; De Meyer, Martine; Nath, Jay; Ludwig, Christian; Dessy, Chantal; Many, Marie-Christine; Gianello, Pierre; Mourad, Michel 分享 收藏
The Effects of Oxygenation on Ex Vivo Kidneys Undergoing Hypothermic Machine Perfusion Patel, Kamlesh; Smith, Thomas B.; Neil, Desley A. H.; Thakker, Alpesh; Tsuchiya, Yugo; Higgs, Ellen B.; Hodges, Nikolas J.; Ready, Andrew R.; Nath, Jay; Ludwig, Christian 分享 收藏
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Open Targets: a platform for therapeutic target identification and validation Koscielny, Gautier; An, Peter; Carvalho-Silva, Denise; Cham, Jennifer A.; Fumis, Luca; Gasparyan, Rippa; Hasan, Samiul; Karamanis, Nikiforos; Maguire, Michael; Papa, Eliseo; Pierleoni, Andrea; Pignatelli, Miguel; Platt, Theo; Rowland, Francis; Wankar, Priyanka; Bento, A. Patricia; Burdett, Tony; Fabregat, Antonio; Forbes, Simon; Gaulton, Anna; Gonzalez, Cristina Yenyxe; Hermjakob, Henning; Hersey, Anne; Jupe, Steven; Kafkas, Senay; Keays, Maria; Leroy, Catherine; Lopez, Francisco-Javier; Magarinos, Maria Paula; Malone, James; McEntyre, Johanna; Fuentes, Alfonso Munoz-Pomer; O'Donovan, Claire; Papatheodorou, Irene; Parkinson, Helen; Palka, Barbara; Paschall, Justin; Petryszak, Robert; Pratanwanich, Naruemon; Sarntivijal, Sirarat; Saunders, Gary; Sidiropoulos, Konstantinos; Smith, Thomas; Sondka, Zbyslaw; Stegle, Oliver; Tang, Amy; Turner, Edward; Vaughan, Brendan; Vrousgou, Olga; Watkins, Xavier; Martin, Maria-Jesus; Sanseau, Philippe; Vamathevan, Jessica; Birney, Ewan; Barrett, Jeffrey; Dunham, Ian 分享 收藏
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