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871 results

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Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW. Pastor VB, et al. Among authors: voss m. Haematologica. 2018 Mar;103(3):427-437. doi: 10.3324/haematol.2017.180778. Epub 2017 Dec 7. Haematologica. 2018. PMID: 29217778 Free PMC article. Clinical Trial.
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Möttönen M, Niinimäki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgård U, Cammenga J, Bryceson YT. Tesi B, et al. Among authors: voss m. Blood. 2017 Apr 20;129(16):2266-2279. doi: 10.1182/blood-2016-10-743302. Epub 2017 Feb 15. Blood. 2017. PMID: 28202457 Free PMC article.
A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.
Tesi B, Rascon J, Chiang SCC, Burnyte B, Löfstedt A, Fasth A, Heizmann M, Juozapaite S, Kiudeliene R, Kvedaraite E, Miseviciene V, Muleviciene A, Müller ML, Nordenskjöld M, Matuzeviciene R, Samaitiene R, Speckmann C, Stankeviciene S, Zekas V, Voss M, Ehl S, Vaiciene-Magistris N, Henter JI, Meeths M, Bryceson YT. Tesi B, et al. Among authors: voss m. J Allergy Clin Immunol. 2018 Jul;142(1):317-321.e8. doi: 10.1016/j.jaci.2018.02.031. Epub 2018 Mar 6. J Allergy Clin Immunol. 2018. PMID: 29522846 Free PMC article. No abstract available.
Development and validation of a high-throughput qPCR platform for the detection of soil-transmitted helminth infections.
Pilotte N, Omballa V, Voss M, Padgett L, Manuel M, Goodman JL, Littlewood T, Manoharan ZZ, Lieshout LV, Verweij JJ, Sekar M, Muthukumar AK, Walch G, Warren A, Sheikh M, Gonzalez A, Galagan SR, Ajjampur SSR, Ibikounlé M, Williams SA, Rains D, Dadwal U, Walson JL. Pilotte N, et al. Among authors: voss m. PLoS Negl Trop Dis. 2025 Jan 10;19(1):e0012760. doi: 10.1371/journal.pntd.0012760. Online ahead of print. PLoS Negl Trop Dis. 2025. PMID: 39792930 Free article.
Prospective Study of Patient, Nursing, and Oncology Provider Perspectives on Telemedicine Visits for Renal Cell Carcinoma Clinical Trials.
Doshi SD, Knezevic A, Gonzalez C, Fischer P, Goodman R, Gornell S, Patel S, Puzio C, Ritea A, Lee CH, Evans L, Voss MH, Motzer RJ, Kotecha RR. Doshi SD, et al. Among authors: voss mh. Clin Genitourin Cancer. 2024 Nov 13;23(1):102268. doi: 10.1016/j.clgc.2024.102268. Online ahead of print. Clin Genitourin Cancer. 2024. PMID: 39616970
Five-Year Prostate-Specific Membrane Antigen Positron Emission Tomography-Based Outcomes of Spot-Scanning Proton Radiation Therapy for Localized Prostate Cancer: A Single Institution Experience.
Sperduto W, Voss MM, Laughlin B, Toesca DAS, Wong WW, Keole SR, Rwigema JM, Yu NY, Schild SE, James SE, Daniels TB, DeWees TA, Vargas CE. Sperduto W, et al. Among authors: voss mm. Adv Radiat Oncol. 2024 Sep 18;9(11):101639. doi: 10.1016/j.adro.2024.101639. eCollection 2024 Nov. Adv Radiat Oncol. 2024. PMID: 39610799 Free PMC article.
GOLPH3 and GOLPH3L maintain Golgi localization of LYSET and a functional mannose 6-phosphate transport pathway.
Brauer BK, Chen Z, Beirow F, Li J, Meisinger D, Capriotti E, Schweizer M, Wagner L, Wienberg J, Hobohm L, Blume L, Qiao W, Narimatsu Y, Carette JE, Clausen H, Winter D, Braulke T, Jabs S, Voss M. Brauer BK, et al. Among authors: voss m. EMBO J. 2024 Dec;43(24):6264-6290. doi: 10.1038/s44318-024-00305-z. Epub 2024 Nov 25. EMBO J. 2024. PMID: 39587297 Free PMC article.
871 results