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2018 3
2019 6
2020 8
2024 0

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13 results

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Page 1
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
Mendes MI, Green LMC, Bertini E, Tonduti D, Aiello C, Smith D, Salsano E, Beerepoot S, Hertecant J, von Spiczak S, Livingston JH, Emrick L, Fraser J, Russell L, Bernard G, Magri S, Di Bella D, Taroni F, Koenig MK, Moroni I, Cappuccio G, Brunetti-Pierri N, Rhee J, Mendelsohn BA, Helbig I, Helbig K, Muhle H, Ismayl O, Vanderver AL, Salomons GS, van der Knaap MS, Wolf NI. Mendes MI, et al. Ann Clin Transl Neurol. 2020 Jan;7(1):83-93. doi: 10.1002/acn3.50960. Epub 2019 Dec 8. Ann Clin Transl Neurol. 2020. PMID: 31814314 Free PMC article.
Diagnosis and management of severe combined immunodeficiency in Australia and New Zealand.
Richards S, Gennery AR, Davies EG, Wong M, Shaw PJ, Peake J, Fraser C, Gray P, Brothers S, Sinclair J, Prestidge T, Preece K, Quinn P, Ramachandran S, Loh R, McLean-Tooke A, Mitchell R, Cole T; Australasian Society of Clinical Immunology and Allergy (ASCIA) Transplantation and Immunodeficiency (TAPID) group. Richards S, et al. J Paediatr Child Health. 2020 Oct;56(10):1508-1513. doi: 10.1111/jpc.15158. J Paediatr Child Health. 2020. PMID: 33099818
Factors Associated With Outcomes of Patients With Primary Sclerosing Cholangitis and Development and Validation of a Risk Scoring System.
Goode EC, Clark AB, Mells GF, Srivastava B, Spiess K, Gelson WTH, Trivedi PJ, Lynch KD, Castren E, Vesterhus MN, Karlsen TH, Ji SG, Anderson CA, Thorburn D, Hudson M, Heneghan MA, Aldersley MA, Bathgate A, Sandford RN, Alexander GJ, Chapman RW, Walmsley M; UK-PSC Consortium; Hirschfield GM, Rushbrook SM. Goode EC, et al. Hepatology. 2019 May;69(5):2120-2135. doi: 10.1002/hep.30479. Epub 2019 Mar 4. Hepatology. 2019. PMID: 30566748 Free PMC article.
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Jurkute N, Leu C, Pogoda HM, Arno G, Robson AG, Nürnberg G, Altmüller J, Thiele H, Motameny S, Toliat MR, Powell K, Höhne W, Michaelides M, Webster AR, Moore AT, Hammerschmidt M, Nürnberg P, Yu-Wai-Man P, Votruba M. Jurkute N, et al. Ann Neurol. 2019 Sep;86(3):368-383. doi: 10.1002/ana.25550. Epub 2019 Jul 31. Ann Neurol. 2019. PMID: 31298765 Free PMC article.
Real-time ex vivo perfusion of human lymph nodes invaded by cancer (REPLICANT): a feasibility study.
Barrow-McGee R, Procter J, Owen J, Woodman N, Lombardelli C, Kothari A, Kovacs T, Douek M, George S, Barry PA, Ramsey K, Gibson A, Buus R, Holgersen E, Natrajan R, Haider S, Shattock MJ, Gillett C, Tutt AN, Pinder SE, Naidoo K. Barrow-McGee R, et al. J Pathol. 2020 Mar;250(3):262-274. doi: 10.1002/path.5367. Epub 2019 Dec 22. J Pathol. 2020. PMID: 31755096 Free PMC article.
13 results