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Fetoscopic Myelomeningocele Repair with Complete Release of the Tethered Spinal Cord Using a Three-Port Technique: Twelve-Month Follow-Up-A Case Report.
Pastuszka A, Zamłyński M, Horzelski T, Zamłyński J, Horzelska E, Maruniak-Chudek I, Marzec A, Paprocka J, Gazy P, Koszutski T, Olejek A. Pastuszka A, et al. Among authors: maruniak chudek i. Diagnostics (Basel). 2022 Nov 28;12(12):2978. doi: 10.3390/diagnostics12122978. Diagnostics (Basel). 2022. PMID: 36552985 Free PMC article.
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. Hum Mutat. 2010 Sep;31(9):992-1002. doi: 10.1002/humu.21304. Hum Mutat. 2010. PMID: 20556798 Free PMC article. Review.
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.
Zenker M, Aigner T, Wendler O, Tralau T, Müntefering H, Fenski R, Pitz S, Schumacher V, Royer-Pokora B, Wühl E, Cochat P, Bouvier R, Kraus C, Mark K, Madlon H, Dötsch J, Rascher W, Maruniak-Chudek I, Lennert T, Neumann LM, Reis A. Zenker M, et al. Hum Mol Genet. 2004 Nov 1;13(21):2625-32. doi: 10.1093/hmg/ddh284. Epub 2004 Sep 14. Hum Mol Genet. 2004. PMID: 15367484
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. 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
Comparison of prenatal and postnatal treatments of spina bifida in Poland--a non-randomized, single-center study.
Zamłyński J, Olejek A, Koszutski T, Ziomek G, Horzelska E, Gajewska-Kucharek A, Maruniak-Chudek I, Herman-Sucharska I, Kluczewska E, Horak S, Bodzek P, Zamłyński M, Kowalik J, Horzelski T, Bohosiewicz J. Zamłyński J, et al. J Matern Fetal Neonatal Med. 2014 Sep;27(14):1409-17. doi: 10.3109/14767058.2013.858689. Epub 2013 Nov 26. J Matern Fetal Neonatal Med. 2014. PMID: 24156622 Free article.
31 results