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A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
Hum Mol Genet. 2014 Apr 15;23(8):2189-97. doi: 10.1093/hmg/ddt616. Epub 2013 Dec 6.
Hum Mol Genet. 2014.
PMID: 24319098
Free PMC article.
Mutational analysis of MIR184 in sporadic keratoconus and myopia.
Lechner J, Bae HA, Guduric-Fuchs J, Rice A, Govindarajan G, Siddiqui S, Abi Farraj L, Yip SP, Yap M, Das M, Souzeau E, Coster D, Mills RA, Lindsay R, Phillips T, Mitchell P, Ali M, Inglehearn CF, Sundaresan P, Craig JE, Simpson DA, Burdon KP, Willoughby CE.
Lechner J, et al. Among authors: abi farraj l.
Invest Ophthalmol Vis Sci. 2013 Aug 5;54(8):5266-72. doi: 10.1167/iovs.13-12035.
Invest Ophthalmol Vis Sci. 2013.
PMID: 23833072
Free article.
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Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review.
Abi Farraj L, Khatoun WD, Abou Chebel N, Wakim V, Dawali K, Ghassibe-Sabbagh M.
Abi Farraj L, et al.
Diagn Pathol. 2019 Nov 4;14(1):123. doi: 10.1186/s13000-019-0902-5.
Diagn Pathol. 2019.
PMID: 31684969
Free PMC article.
Review.
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Untargeted Mass Spectrometry Lipidomics identifies correlation between serum sphingomyelins and plasma cholesterol.
Zalloua P, Kadar H, Hariri E, Abi Farraj L, Brial F, Hedjazi L, Le Lay A, Colleu A, Dubus J, Touboul D, Matsuda F, Lathrop M, Nicholson JK, Dumas ME, Gauguier D.
Zalloua P, et al. Among authors: abi farraj l.
Lipids Health Dis. 2019 Feb 2;18(1):38. doi: 10.1186/s12944-018-0948-5.
Lipids Health Dis. 2019.
PMID: 30711004
Free PMC article.
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