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Page 1
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Dückers G, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG, Giliani S, Gold MS, Jacobsen EM, Jansen MH, King JR, Laxer RM, Lupski JR, Mace E, Marcenaro S, Maroofian R, Meijer AB, Niehues T, Notarangelo LD, Orange J, Pannicke U, Pearson C, Picco P, Quinn PJ, Schulz A, Seeborg F, Stray-Pedersen A, Tawamie H, van Leeuwen EMM, Aiuti A, Yeung R, Schwarz K, Kuijpers TW. Volpi S, et al. Among authors: blank a. J Allergy Clin Immunol. 2019 Jun;143(6):2296-2299. doi: 10.1016/j.jaci.2019.02.003. Epub 2019 Feb 13. J Allergy Clin Immunol. 2019. PMID: 30771411 Free PMC article. No abstract available.
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.
Diekman EF, Ferdinandusse S, van der Pol L, Waterham HR, Ruiter JP, Ijlst L, Wanders RJ, Houten SM, Wijburg FA, Blank AC, Asselbergs FW, Houtkooper RH, Visser G. Diekman EF, et al. Among authors: blank ac. Genet Med. 2015 Dec;17(12):989-94. doi: 10.1038/gim.2015.22. Epub 2015 Apr 2. Genet Med. 2015. PMID: 25834949 Free article.
Cardiac pathology in spinal muscular atrophy: a systematic review.
Wijngaarde CA, Blank AC, Stam M, Wadman RI, van den Berg LH, van der Pol WL. Wijngaarde CA, et al. Among authors: blank ac. Orphanet J Rare Dis. 2017 Apr 11;12(1):67. doi: 10.1186/s13023-017-0613-5. Orphanet J Rare Dis. 2017. PMID: 28399889 Free PMC article. Review.
Enormous myxoid/round cell liposarcoma: A case report.
Finlay JR, Vijayakumar G, Braun A, Almajnooni A, Yu A, Miller I, Kokosis G, Wang D, Blank A, Gitelis S. Finlay JR, et al. Among authors: blank a. Rare Tumors. 2024 May 16;16:20363613241255668. doi: 10.1177/20363613241255668. eCollection 2024. Rare Tumors. 2024. PMID: 38766573 Free PMC article.
Bulevirtide monotherapy in patients with chronic HDV: Efficacy and safety results through week 96 from a phase 3 randomized trial.
Wedemeyer H, Aleman S, Brunetto M, Blank A, Andreone P, Bogomolov P, Chulanov V, Mamonova N, Geyvandova N, Morozov V, Sagalova O, Stepanova T, Berger A, Ciesek S, Manuilov D, Mercier RC, Da BL, Chee GM, Li M, Flaherty JF, Lau AH, Osinusi A, Schulze Zur Wiesch J, Cornberg M, Zeuzem S, Lampertico P. Wedemeyer H, et al. Among authors: blank a. J Hepatol. 2024 May 9:S0168-8278(24)00333-7. doi: 10.1016/j.jhep.2024.05.001. Online ahead of print. J Hepatol. 2024. PMID: 38734383 Free article.
Total Humeral Endoprosthetic Reconstruction: A Systematic Review.
Jain N, Campano D, Gottlich C, Yu A, Brindley G, Callan A, Blank A. Jain N, et al. Among authors: blank a. Orthopedics. 2024 May-Jun;47(3):e106-e113. doi: 10.3928/01477447-20240424-01. Epub 2024 May 1. Orthopedics. 2024. PMID: 38690850 Review.
Myoepithelial Carcinoma of Soft Tissue: Report of Two Cases.
Richards AR, Vijayakumar G, Braun A, Gitelis S, Blank AT. Richards AR, et al. Among authors: blank at. JBJS Case Connect. 2024 Apr 12;14(2). doi: 10.2106/JBJS.CC.23.00482. eCollection 2024 Apr 1. JBJS Case Connect. 2024. PMID: 38608128
591 results