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Year Number of Results
2002 1
2008 2
2009 2
2010 1
2011 2
2012 3
2013 2
2017 1
2018 3
2020 2
2021 2
2022 2
2023 1
2024 0

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Page 1
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Bláhová K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Bröking E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wühl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M. Matejas V, et al. Among authors: blahova k. Hum Mutat. 2010 Sep;31(9):992-1002. doi: 10.1002/humu.21304. Hum Mutat. 2010. PMID: 20556798 Free PMC article. Review.
Ophthalmological aspects of Pierson syndrome.
Bredrup C, Matejas V, Barrow M, Bláhová K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonça EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietliński J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I. Bredrup C, et al. Among authors: blahova k. Am J Ophthalmol. 2008 Oct;146(4):602-611. doi: 10.1016/j.ajo.2008.05.039. Epub 2008 Jul 31. Am J Ophthalmol. 2008. PMID: 18672223
Blood pressure in children with renal cysts and diabetes syndrome.
Seeman T, Weigel F, Blahova K, Fencl F, Pruhova S, Hermes K, Klaus R, Lange-Sperandio B, Grote V, John-Kroegel U. Seeman T, et al. Among authors: blahova k. Eur J Pediatr. 2021 Dec;180(12):3599-3603. doi: 10.1007/s00431-021-04165-1. Epub 2021 Jun 26. Eur J Pediatr. 2021. PMID: 34176013
Various phenotypes of disease associated with mutated DGKE gene.
Bezdíčka M, Pavlíček P, Bláhová K, Háček J, Zieg J. Bezdíčka M, et al. Among authors: blahova k. Eur J Med Genet. 2020 Aug;63(8):103953. doi: 10.1016/j.ejmg.2020.103953. Epub 2020 May 13. Eur J Med Genet. 2020. PMID: 32413569
20 results