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First case of trisomy 13 plus mosaic trisomy 1q.
Liehr T, Schmidt M, Starke H, Ziegler M, Kittner G, Heller A, Rubtsov N, Trifonov V, Claussen U. Liehr T, et al. Fetal Diagn Ther. 2002 May-Jun;17(3):133-6. doi: 10.1159/000048025. Fetal Diagn Ther. 2002. PMID: 11914563
A report of pure 7p duplication syndrome and review of the literature.
Papadopoulou E, Sifakis S, Sarri C, Gyftodimou J, Liehr T, Mrasek K, Kalmanti M, Petersen MB. Papadopoulou E, et al. Among authors: liehr t. Am J Med Genet A. 2006 Dec 15;140(24):2802-6. doi: 10.1002/ajmg.a.31538. Am J Med Genet A. 2006. PMID: 17103460 Review.
Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report.
Manolakos E, Kosyakova N, Thomaidis L, Neroutsou R, Weise A, Mihalatos M, Orru S, Kokotas H, Kitsos G, Liehr T, Petersen MB. Manolakos E, et al. Among authors: liehr t. Mol Cytogenet. 2008 Nov 11;1:24. doi: 10.1186/1755-8166-1-24. Mol Cytogenet. 2008. PMID: 19014423 Free PMC article.
745 results