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Microfluidic channel-assisted screening of hematopoietic malignancies.
Mughal F, Baldock SJ, Karimiani EG, Telford N, Goddard NJ, Day PJ. Mughal F, et al. Among authors: karimiani eg. Genes Chromosomes Cancer. 2014 Mar;53(3):255-63. doi: 10.1002/gcc.22137. Epub 2013 Dec 16. Genes Chromosomes Cancer. 2014. PMID: 24339206
JAK2 V617F Mutation in Adult T Cell Leukemia-Lymphoma.
Ayatollahi H, Sadeghian MH, Keramati MR, Karimiani EG, Jafarian AH, Shirdel A, Rahimi H, Zangane-Far ME, Shajiei A, Sheikhi M. Ayatollahi H, et al. Among authors: karimiani eg. Indian J Hematol Blood Transfus. 2016 Dec;32(4):437-441. doi: 10.1007/s12288-015-0620-4. Epub 2015 Dec 17. Indian J Hematol Blood Transfus. 2016. PMID: 27812253 Free PMC article.
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Karakaya M, Storbeck M, Strathmann EA, Delle Vedove A, Hölker I, Altmueller J, Naghiyeva L, Schmitz-Steinkrüger L, Vezyroglou K, Motameny S, Alawbathani S, Thiele H, Polat AI, Okur D, Boostani R, Karimiani EG, Wunderlich G, Ardicli D, Topaloglu H, Kirschner J, Schrank B, Maroofian R, Magnusson O, Yis U, Nürnberg P, Heller R, Wirth B. Karakaya M, et al. Among authors: karimiani eg. Hum Mutat. 2018 Sep;39(9):1284-1298. doi: 10.1002/humu.23560. Epub 2018 Jul 25. Hum Mutat. 2018. PMID: 29858556
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
van der Knoop MM, Maroofian R, Fukata Y, van Ierland Y, Karimiani EG, Lehesjoki AE, Muona M, Paetau A, Miyazaki Y, Hirano Y, Selim L, de França M, Fock RA, Beetz C, Ruivenkamp CAL, Eaton AJ, Morneau-Jacob FD, Sagi-Dain L, Shemer-Meiri L, Peleg A, Haddad-Halloun J, Kamphuis DJ, Peeters-Scholte CMPCD, Kurul SH, Horvath R, Lochmüller H, Murphy D, Waldmüller S, Spranger S, Overberg D, Muir AM, Rad A, Vona B, Abdulwahad F, Maddirevula S, Povolotskaya IS, Voinova VY, Gowda VK, Srinivasan VM, Alkuraya FS, Mefford HC, Alfadhel M, Haack TB, Striano P, Severino M, Fukata M, Hilhorst-Hofstee Y, Houlden H. van der Knoop MM, et al. Among authors: karimiani eg. Brain. 2022 Jul 29;145(7):2301-2312. doi: 10.1093/brain/awac116. Brain. 2022. PMID: 35373813 Free PMC article.
79 results