5909 items matching your search terms.
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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
- Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W; Applegate, Carolyn D; Attaripour Isfahani, Sanaz; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A; Baple, Emma L; Bhatia, Kailash P; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; d'Hardemare, Vincent; Study, Deciphering Developmental Disorders; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E; Farrelly, Ellyn; Fitzpatrick, David R; Fearon, Conor; Fieg, Elizabeth L; Fogel, Brent L; Forman, Eva B; Fox, Rachel G; Consortium, Genomics England Research; Gahl, William A; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J; Hamosh, Ada; Hully, Marie; Jansen, Sandra; Jeong, Suh Young; Krier, Joel B; Krystal, Sidney; Kumar, Kishore R; Laurencin, Chloe; Lee, Hane; Lesca, Gaetan; Francois, Laurence Lion; Lynch, Timothy; Mahant, Neil; Martinez-Agosto, Julian A; Milesi, Christophe; Mills, Kelly A; Mondain, Michel; Morales-Briceno, Hugo; BioResource, NIHR; Ostergaard, John R; Pal, Swasti; Pallais, Juan C; Pavillard, Frederique; Perrigault, Pierre-Francois; Petersen, Andrea K; Polo, Gustavo; Poulen, Gaetan; Rinne, Tuula; Roujeau, Thomas; Rogers, Caleb; Roubertie, Agathe; Sahagian, Michelle; Schaefer, Elise; Selim, Laila; Selway, Richard; Sharma, Nutan; Signer, Rebecca; Soldatos, Ariane G; Stevenson, David A; Stewart, Fiona; Tchan, Michel; Network, Undiagnosed Diseases; Verma, Ishwar C; de Vries, Bert B A; Wilson, Jenny L; Wong, Derek A; Zaitoun, Raghda; Zhen, Dolly; Znaczko, Anna; Dale, Russell C; de Gusmao, Claudio M; Friedman, Jennifer; Fung, Victor S C; King, Mary D; Mohammad, Shekeeb S; Rohena, Luis; Waugh, Jeff L; Toro, Camilo; Raymond, F Lucy; Topf, Maya; Coubes, Philippe; Gorman, Kathleen M; Kurian, Manju A
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BRAIN
143
(11)
:3242-3261,
2020
10.1093/brain/awaa304
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Analytical validity of nanopore sequencing for rapid SARS-CoV-2 genome analysis
- Bull, Rowena A.; Adikari, Thiruni; Hammond, Jillian M.; Stevanovski, Igor; Ferguson, James M.; Beukers, Alicia G.; Naing, Zin; Yeang, Malinna; Verich, Andrey; Gamaarachichi, Hasindu; Kim, Ki Wook; Luciani, Fabio; Stelzer-Braid, Sacha; Eden, John-Sebastian; Rawlinson, William D.; van Hal, Sebastiaan J.; Deveson, Ira W.
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Nature Communications
11
(1)
:6272,
2020
https://doi.org/10.1038/s41467-020-20075-6
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Single-Cell Immune Profiling in Coronary Artery Disease: The Role of State-of-the-Art Immunophenotyping With Mass Cytometry in the Diagnosis of Atherosclerosis
- Kott, K. A.; Vernon, S. T.; Hansen, T.; de Dreu, M.; Das, S. K.; Powell, J.; Fazekas de St Groth, B.; Di Bartolo, B. A.; McGuire, H. M.; Figtree, G. A.
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Journal of the American Heart Association
9
(24)
:e017759,
2020
10.1161/JAHA.120.017759
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Coordinated regulation of energy and glucose homeostasis by insulin and the NPY system
- Lee, N. J.; Herzog, H.
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JOURNAL OF NEUROENDOCRINOLOGY
:e12925,
2020
10.1111/jne.12925
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Clinical characteristics and diagnostic clues to Neurometabolic causes of dystonia
- Phua, C. S.; Kumar, K. R.; Levy, S.
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JOURNAL OF THE NEUROLOGICAL SCIENCES
419
:117167,
2020
10.1016/j.jns.2020.117167
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DNA G-Quadruplex and i-Motif Structure Formation Is Interdependent in Human Cells
- King, J. J.; Irving, K. L.; Evans, C. W.; Chikhale, R. V.; Becker, R.; Morris, C. J.; Pena Martinez, C. D.; Schofield, P.; Christ, D.; Hurley, L. H.; Waller, Z. A. E.; Iyer, K. S.; Smith, N. M.
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JOURNAL OF THE AMERICAN CHEMICAL SOCIETY
142
(49)
:20600-20604,
2020
10.1021/jacs.0c11708
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Androgen deprivation in prostate cancer: benefits of home-based resistance training
- Lam, T.; Cheema, B.; Hayden, A.; Lord, S. R.; Gurney, H.; Gounden, S.; Reddy, N.; Shahidipour, H.; Read, S.; Stone, G.; McLean, M.; Birzniece, V.
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SPORTS MEDICINE
6
(1)
:59,
2020
10.1186/s40798-020-00288-1
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Multidisciplinary management of acromegaly: A consensus
- Giustina, A.; Barkhoudarian, G.; Beckers, A.; Ben-Shlomo, A.; Biermasz, N.; Biller, B.; Boguszewski, C.; Bolanowski, M.; Bollerslev, J.; Bonert, V.; Bronstein, M. D.; Buchfelder, M.; Casanueva, F.; Chanson, P.; Clemmons, D.; Fleseriu, M.; Formenti, A. M.; Freda, P.; Gadelha, M.; Geer, E.; Gurnell, M.; Heaney, A. P.; Ho, K. K. Y.; Ioachimescu, A. G.; Lamberts, S.; Laws, E.; Losa, M.; Maffei, P.; Mamelak, A.; Mercado, M.; Molitch, M.; Mortini, P.; Pereira, A. M.; Petersenn, S.; Post, K.; Puig-Domingo, M.; Salvatori, R.; Samson, S. L.; Shimon, I.; Strasburger, C.; Swearingen, B.; Trainer, P.; Vance, M. L.; Wass, J.; Wierman, M. E.; Yuen, K. C. J.; Zatelli, M. C.; Melmed, S.
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REVIEWS IN ENDOCRINE & METABOLIC DISORDERS
21
(4)
:667-678,
2020
10.1007/s11154-020-09588-z
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Lean mass and peak bone mineral density
- Nguyen, H. G.; Pham, M. T.; Ho-Pham, L. T.; Nguyen, T. V.
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Osteoporosis and Sarcopenia
6
(4)
:212-216,
2020
10.1016/j.afos.2020.10.001
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Clinical Utility of Computer-Aided Diagnosis of Vertebral Fractures From Computed Tomography Images
- Kolanu, N.; Silverstone, E. J.; Ho, B. H.; Pham, H.; Hansen, A.; Pauley, E.; Quirk, A. R.; Sweeney, S. C.; Center, J. R.; Pocock, N. A.
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JOURNAL OF BONE AND MINERAL RESEARCH
35
(12)
:2307-2312,
2020
10.1002/jbmr.4146
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Protein-carbohydrate ingestion alters Vps34 cellular localization independent of changes in kinase activity in human skeletal muscle
- Hodson, N.; Dent, J. R.; Song, Z.; O'Leary, M. F.; Nicholson, T.; Jones, S. W.; Murray, J. T.; Jeromson, S.; Hamilton, D. L.; Breen, L.; Philp, A.
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EXPERIMENTAL PHYSIOLOGY
105
(12)
:2178-2189,
2020
10.1113/EP088805
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The Role of Diet in the Pathogenesis and Management of Inflammatory Bowel Disease: A Review
- Wark, G.; Samocha-Bonet, D.; Ghaly, S.; Danta, M.
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Nutrients
13
(1)
2020
10.3390/nu13010135
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Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria
- Rui Yang, Federico Mele, Lisa Worley, David Langlais, Jeremie Rosain, Ibithal Benhsaien, Houda Elarabi, Carys A. Croft, Jean-Marc Doisne, Peng Zhang, Marc Weisshaar, David Jarrossay, Daniela Latorre, Yichao Shen, Jing Han, Conor Gruber, Janet Markle, Fatima Al Ali, Mahbuba Rahman, Taushif Khan, Yoann Seeleuthner, View ORCID ProfileGaspard Kerner, Lucas T. Husquin, Julia L. Maclsaac, Mohamed Jeljeli, Fatima Ailal, Michael S. Kobor, Carmen Oleaga-Quintas, Manon Roynard, Mathieu Bourgey, Jamila El Baghdadi, Stephanie Boisson-Dupuis, Anne Puel, Frederic Batteux, Flore Rozenberg, Nico Marr, Qiang Pan-Hammarstrom, Dusan Bogunovic, Lluis Quintana-Murci, Thomas Carroll, Cindy S Ma, Laurent Abel, Aziz Bousfiha, James P. Di Santo, Laurie H Glimcher, Philippe Gros, Stuart G Tangye, Federica Sallusto, Jacinta Bustamante, Jean-Laurent Casanova
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CELL
183
(7)
:1826-1847 e31,
2020
10.1016/j.cell.2020.10.046.
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Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency
- S Ghosh, S Bal, ESJ Edwards, B Pillay, R Jimenez Heredia, F Cipe, G Rao, E Salzer, S Zoghi, H Abolhassani, T Momen, E Gostick, DA Price, Y Zhang, AJ Oler, C Gonzago-Jauregui, B Erman, A Metin, I Ilhan, S Haskologlu, C Islamoglu, K Baskin, S Ceylaner, E Yilmaz, E Unal, M Karakukcu, D Berghuis, T Cole, AK Gupta, F Hauck, AIM Hoepelman, S Baris, E Karakoc-Aydiner, A Ozen, L Kager, D Holzinger, M Paulussen, R Kruger, R Meisel, P Oommen, E Morris, B Neven, A Worth, J van Montfrans, PLA Fraaij, S Choo, F Dogu, EG Davies, S Burns, G Duckers, R Perez Becker, H von Bernuth, S Latour, M Faraci, M Gattorno, HC Su, Q Pan Hammarstrom, L Hammarstrom, MJ Lenardo, CS Ma, T Niehues, A Aghamohammadi, N Rezaei, A Ikinciogullari, SG Tangye, AC Lankester, K Boztug
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BLOOD
136
(23)
:2638-2655,
2020
doi: 10.1182/blood.2020006738
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Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density
- Swan, A. L.; Schutt, C.; Rozman, J.; Del Mar Muniz Moreno, M.; Brandmaier, S.; Simon, M.; Leuchtenberger, S.; Griffiths, M.; Brommage, R.; Keskivali-Bond, P.; Grallert, H.; Werner, T.; Teperino, R.; Becker, L.; Miller, G.; Moshiri, A.; Seavitt, J. R.; Cissell, D. D.; Meehan, T. F.; Acar, E. F.; Lelliott, C. J.; Flenniken, A. M.; Champy, M. F.; Sorg, T.; Ayadi, A.; Braun, R. E.; Cater, H.; Dickinson, M. E.; Flicek, P.; Gallegos, J.; Ghirardello, E. J.; Heaney, J. D.; Jacquot, S.; Lally, C.; Logan, J. G.; Teboul, L.; Mason, J.; Spielmann, N.; McKerlie, C.; Murray, S. A.; Nutter, L. M. J.; Odfalk, K. F.; Parkinson, H.; Prochazka, J.; Reynolds, C. L.; Selloum, M.; Spoutil, F.; Svenson, K. L.; Vales, T. S.; Wells, S. E.; White, J. K.; Sedlacek, R.; Wurst, W.; Lloyd, K. C. K.; Croucher, P. I.; Fuchs, H.; Williams, G. R.; Bassett, J. H. D.; Gailus-Durner, V.; Herault, Y.; Mallon, A. M.; Brown, S. D. M.; Mayer-Kuckuk, P.; Hrabe de Angelis, M.; Consortium, Impc
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PLOS GENET
16
(12)
:e1009190,
2020
10.1371/journal.pgen.1009190
