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A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
EMBO Mol Med. 2023 Feb 8;15(2):e16478. doi: 10.15252/emmm.202216478. Epub 2023 Jan 18.
EMBO Mol Med. 2023.
PMID: 36652330
Free PMC article.
Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6.
Trott J, Alpagu Y, Tan EK, Shboul M, Dawood Y, Elsy M, Wollmann H, Tano V, Bonnard C, Eng S, Narayanan G, Junnarkar S, Wearne S, Strutt J, Kumar A, Tomaz LB, Goy PA, Mzoughi S, Jennings R, Hagoort J, Eskin A, Lee H, Nelson SF, Al-Kazaleh F, El-Khateeb M, Fathallah R, Shah H, Goeke J, Langley SR, Guccione E, Hanley N, De Bakker BS, Reversade B, Dunn NR.
Trott J, et al. Among authors: fathallah r.
Development. 2020 Nov 5;147(21):dev194878. doi: 10.1242/dev.194878.
Development. 2020.
PMID: 33033118
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Comparison of population based cancer incidence rates among Circassians, Chechans and Arabs in Jordan (1996-2005).
Fathallah RM, Dajani R.
Fathallah RM, et al.
Asian Pac J Cancer Prev. 2013;14(10):6035-40. doi: 10.7314/apjcp.2013.14.10.6035.
Asian Pac J Cancer Prev. 2013.
PMID: 24289621
Free article.
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Prevalence of MTHFR C677T single nucleotide polymorphism in genetically isolated populations in Jordan.
Dajani R, Fathallah R, Arafat A, AbdulQader ME, Hakooz N, Al-Motassem Y, El-Khateeb M.
Dajani R, et al. Among authors: fathallah r.
Biochem Genet. 2013 Oct;51(9-10):780-8. doi: 10.1007/s10528-013-9606-9. Epub 2013 Jun 8.
Biochem Genet. 2013.
PMID: 23749065
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