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The use of echocardiography in the management of shock in critical care: a prospective, multi-centre, observational study.
Flower L, Waite A, Boulton A, Peck M, Akhtar W, Boyle AJ, Gudibande S, Ingram TE, Johnston B, Marsh S, Miller A, Nash A, Olusanya O, Parulekar P, Wagstaff D, Wilkinson J, Proudfoot AG; NEAT ECHO Collaborators. Flower L, et al. Intensive Care Med. 2024 Oct;50(10):1668-1680. doi: 10.1007/s00134-024-07590-6. Epub 2024 Aug 19. Intensive Care Med. 2024. PMID: 39158704
NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome.
Chen R, Lukianova E, van der Loeff IS, Spegarova JS, Willet JDP, James KD, Ryder EJ, Griffin H, IJspeert H, Gajbhiye A, Lamoliatte F, Marin-Rubio JL, Woodbine L, Lemos H, Swan DJ, Pintar V, Sayes K, Ruiz-Morales ER, Eastham S, Dixon D, Prete M, Prigmore E, Jeggo P, Boyes J, Mellor A, Huang L, van der Burg M, Engelhardt KR, Stray-Pedersen A, Erichsen HC, Gennery AR, Trost M, Adams DJ, Anderson G, Lorenc A, Trynka G, Hambleton S. Chen R, et al. Among authors: sayes k. Sci Immunol. 2024 May 24;9(95):eade5705. doi: 10.1126/sciimmunol.ade5705. Epub 2024 May 24. Sci Immunol. 2024. PMID: 38787962