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[Molecular diagnosis strategies in neurofibromatosis type 1].
Bhouri R, Hebrard B, Wolkenstein P, Funalot B. Bhouri R, et al. Ann Dermatol Venereol. 2020 Mar;147(3):247-251. doi: 10.1016/j.annder.2019.09.608. Epub 2019 Dec 20. Ann Dermatol Venereol. 2020. PMID: 31870577 French. No abstract available.
Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study.
El Khattabi LA, Rouillac-Le Sciellour C, Le Tessier D, Luscan A, Coustier A, Porcher R, Bhouri R, Nectoux J, Sérazin V, Quibel T, Mandelbrot L, Tsatsaris V, Vialard F, Dupont JM. El Khattabi LA, et al. Among authors: bhouri r. PLoS One. 2016 May 11;11(5):e0155009. doi: 10.1371/journal.pone.0155009. eCollection 2016. PLoS One. 2016. PMID: 27167625 Free PMC article.
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).
Hyon C, Chantot-Bastaraud S, Harbuz R, Bhouri R, Perrot N, Peycelon M, Sibony M, Rojo S, Piguel X, Bilan F, Gilbert-Dussardier B, Kitzis A, McElreavey K, Siffroi JP, Bashamboo A. Hyon C, et al. Among authors: bhouri r. Am J Med Genet A. 2015 Aug;167A(8):1851-8. doi: 10.1002/ajmg.a.37101. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900885 Free article.
Sperm fluorescence in situ hybridization study in nine men carrying a Robertsonian or a reciprocal translocation: relationship between segregation modes and high-magnification sperm morphology examination.
Cassuto NG, Le Foll N, Chantot-Bastaraud S, Balet R, Bouret D, Rouen A, Bhouri R, Hyon C, Siffroi JP. Cassuto NG, et al. Among authors: bhouri r. Fertil Steril. 2011 Oct;96(4):826-32. doi: 10.1016/j.fertnstert.2011.07.1143. Epub 2011 Aug 25. Fertil Steril. 2011. PMID: 21871621 Free article.