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A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.
Justice CM, Cuellar A, Bala K, Sabourin JA, Cunningham ML, Crawford K, Phipps JM, Zhou Y, Cilliers D, Byren JC, Johnson D, Wall SA, Morton JEV, Noons P, Sweeney E, Weber A, Rees KEM, Wilson LC, Simeonov E, Kaneva R, Yaneva N, Georgiev K, Bussarsky A, Senders C, Zwienenberg M, Boggan J, Roscioli T, Tamburrini G, Barba M, Conway K, Sheffield VC, Brody L, Mills JL, Kay D, Sicko RJ, Langlois PH, Tittle RK, Botto LD, Jenkins MM, LaSalle JM, Lattanzi W, Wilkie AOM, Wilson AF, Romitti PA, Boyadjiev SA; National Birth Defects Prevention Study. Justice CM, et al. Among authors: simeonov e. Hum Genet. 2020 Aug;139(8):1077-1090. doi: 10.1007/s00439-020-02157-z. Epub 2020 Apr 7. Hum Genet. 2020. PMID: 32266521 Free PMC article.
Genetic services in Bulgaria.
Simeonov E, Kremenski I. Simeonov E, et al. Eur J Hum Genet. 1997;5 Suppl 2:41-5. Eur J Hum Genet. 1997. PMID: 9450194 No abstract available.
SCN1A mutation spectrum in a cohort of Bulgarian patients with GEFS+ phenotype.
Peycheva V, Ivanova N, Kamenarova K, Panova M, Pacheva I, Ivanov I, Bojidarova M, Tacheva G, Stamatov D, Litvinenko I, Hristova D, Deneva D, Rodopska E, Slavkova E, Aleksandrova I, Simeonov E, Dimova P, Bojinova V, Mitev V, Jordanova A, Kaneva R. Peycheva V, et al. Among authors: simeonov e. Turk J Pediatr. 2020;62(5):711-725. doi: 10.24953/turkjped.2020.05.002. Turk J Pediatr. 2020. PMID: 33108073 Free article.
Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability.
Peycheva V, Kamenarova K, Ivanova N, Stamatov D, Avdjieva-Tzavella D, Alexandrova I, Zhelyazkova S, Pacheva I, Dimova P, Ivanov I, Litvinenko I, Bozhinova V, Tournev I, Simeonov E, Mitev V, Jordanova A, Kaneva R. Peycheva V, et al. Among authors: simeonov e. Gene. 2018 Aug 15;667:45-55. doi: 10.1016/j.gene.2018.05.015. Epub 2018 May 9. Gene. 2018. PMID: 29753047
Acrofacial dysostosis type Rodríguez.
Dimitrov B, Balikova I, Jekova N, Vakrilova L, Fryns JP, Simeonov E. Dimitrov B, et al. Among authors: simeonov e. Am J Med Genet A. 2005 May 15;135(1):81-5. doi: 10.1002/ajmg.a.30673. Am J Med Genet A. 2005. PMID: 15793832 Review.
43 results