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Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene.
Matuszewska KE, Badura-Stronka M, Śmigiel R, Cabała M, Biernacka A, Kosinska J, Rydzanicz M, Winczewska-Wiktor A, Sasiadek M, Latos-Bieleńska A, Żemojtel T, Płoski R. Matuszewska KE, et al. Among authors: cabala m. Clin Dysmorphol. 2018 Apr;27(2):49-52. doi: 10.1097/MCD.0000000000000212. Clin Dysmorphol. 2018. PMID: 29389715 No abstract available.
Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.
Smigiel R, Cabala M, Jakubiak A, Kodera H, Sasiadek MJ, Matsumoto N, Sasiadek MM, Saitsu H. Smigiel R, et al. Among authors: cabala m. Birth Defects Res A Clin Mol Teratol. 2016 Apr;106(4):304-7. doi: 10.1002/bdra.23488. Epub 2016 Feb 16. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 26879631
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
Koczkowska M, Wierzba J, Śmigiel R, Sąsiadek M, Cabała M, Ślężak R, Iliszko M, Kardaś I, Limon J, Lipska-Ziętkiewicz BS. Koczkowska M, et al. Among authors: cabala m. J Appl Genet. 2017 Feb;58(1):93-98. doi: 10.1007/s13353-016-0366-1. Epub 2016 Sep 14. J Appl Genet. 2017. PMID: 27629806 Free PMC article.
The assessment of skeletal status in young patients with Turner syndrome by 2 densitometric techniques: Phalangeal quantitative ultrasound and dual energy X-ray absorptiometry.
Wikiera B, Mierzwicka A, Basiak A, Halupczok-Żyła J, Jędrzejuk D, Cabała M, Noczyńska A, Bolanowski M, Mikołajczyk K, Halaba ZP. Wikiera B, et al. Among authors: cabala m. Adv Clin Exp Med. 2018 Jun;27(6):759-764. doi: 10.17219/acem/74598. Adv Clin Exp Med. 2018. PMID: 29877636 Free article.
Epileptic seizures in cerebral venous sinus thrombosis: Subgroup analysis of VENOST study.
Uluduz D, Midi I, Duman T, Yayla V, Karahan AY, Afsar N, Goksu EO, Mengulluoglu N, Aytac E, Sungur MA, Yesilot N, Ince B, Yalin OO, Oruc S, Senol MG, Yilmaz A, Gokce M, Demirci S, Kusbeci OY, Uzuner G, Caglayan HZB, Acikgoz M, Kurucu H, Ozdag F, Baybas S, Ekmekci H, Cabala M, Yaman M, Yürekli VA, Tekeli H, Genc H, Utku U, Sahin S, Tokuc FEU, Uzuner N, Bektas H, Kablan Y, Goksel BK, Milanlioglu A, Orken DN, Aluclu U, Colakoglu S, Tufekci A, Bakar M, Nazliel B, Tascilar N, Goksan B, Kozak HH, Demir S, Mısırli CH, Kucukoglu H, Cinar N, Domac FM, Ozturk S, Gunes T. Uluduz D, et al. Among authors: cabala m. Seizure. 2020 May;78:113-117. doi: 10.1016/j.seizure.2020.02.017. Epub 2020 Mar 3. Seizure. 2020. PMID: 32353818 Free article.
Interaction of Au with CeO2(111): A photoemission study.
Skoda M, Cabala M, Matolínová I, Prince KC, Skála T, Sutara F, Veltruská K, Matolín V. Skoda M, et al. Among authors: cabala m. J Chem Phys. 2009 Jan 21;130(3):034703. doi: 10.1063/1.3046684. J Chem Phys. 2009. PMID: 19173533
11 results