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Page 1
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R, Pinková B, Réblová K, Bučková H, Kopečková L, Němečková J, Puchmajerová A, Malíková M, Hermanová M, Fajkusová L. Borská R, et al. Among authors: malikova m. Orphanet J Rare Dis. 2019 May 2;14(1):92. doi: 10.1186/s13023-019-1076-7. Orphanet J Rare Dis. 2019. PMID: 31046801 Free PMC article.
Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis.
Hubacek M, Kripnerova T, Nemcikova M, Krepelová A, Puchmajerova A, Malikova M, Havlovicová M, Cadova J, Kodet R, Macek M Jr, Dostalova T. Hubacek M, et al. Among authors: malikova m. Neuro Endocrinol Lett. 2016 Sep;37(4):269-276. Neuro Endocrinol Lett. 2016. PMID: 27857042
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.
Paděrová J, Holubová A, Simandlová M, Puchmajerová A, Vlčková M, Malíková M, Pourová R, Vejvalková S, Havlovicová M, Šenkeříková M, Ptáková N, Drábová J, Geryk J, Maver A, Křepelová A, Macek M Jr. Paděrová J, et al. Among authors: malikova m. Clin Genet. 2016 Sep;90(3):230-7. doi: 10.1111/cge.12754. Epub 2016 Mar 8. Clin Genet. 2016. PMID: 26841933
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L. Piard J, et al. Among authors: malikova m. Am J Med Genet A. 2018 Mar;176(3):668-675. doi: 10.1002/ajmg.a.38604. Epub 2018 Jan 17. Am J Med Genet A. 2018. PMID: 29341480 Free PMC article. Review.
75 results