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[Deletion 15q26 syndrome].
Szakszon K, Ujfalusi A, Balogh E, Mogyorósy G, Felszeghy E, Szilvássy J, Horkay E, Berényi E, Merő G, Knegt AC. Szakszon K, et al. Orv Hetil. 2014 Mar 2;155(9):362-4. doi: 10.1556/OH.2014.29826. Orv Hetil. 2014. PMID: 24566701 Hungarian.
Clinical and genetic characteristics of craniosynostosis in Hungary.
Bessenyei B, Nagy A, Szakszon K, Mokánszki A, Balogh E, Ujfalusi A, Tihanyi M, Novák L, Bognár L, Oláh É. Bessenyei B, et al. Among authors: szakszon k. Am J Med Genet A. 2015 Dec;167A(12):2985-91. doi: 10.1002/ajmg.a.37298. Epub 2015 Aug 20. Am J Med Genet A. 2015. PMID: 26289989
MED13L-related intellectual disability due to paternal germinal mosaicism.
Bessenyei B, Balogh I, Mokánszki A, Ujfalusi A, Pfundt R, Szakszon K. Bessenyei B, et al. Among authors: szakszon k. Cold Spring Harb Mol Case Stud. 2022 Jan 10;8(1):a006124. doi: 10.1101/mcs.a006124. Print 2022 Jan. Cold Spring Harb Mol Case Stud. 2022. PMID: 34654706 Free PMC article.
41 results