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Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Genes (Basel). 2021 Dec 18;12(12):2014. doi: 10.3390/genes12122014.
Genes (Basel). 2021.
PMID: 34946966
Free PMC article.
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Bartnik M, Szczepanik E, Derwińska K, Wiśniowiecka-Kowalnik B, Gambin T, Sykulski M, Ziemkiewicz K, Kędzior M, Gos M, Hoffman-Zacharska D, Mazurczak T, Jeziorek A, Antczak-Marach D, Rudzka-Dybała M, Mazurkiewicz H, Goszczańska-Ciuchta A, Zalewska-Miszkurka Z, Terczyńska I, Sobierajewicz M, Shaw CA, Gambin A, Mierzewska H, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P.
Bartnik M, et al. Among authors: zalewska miszkurka z.
Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):760-71. doi: 10.1002/ajmg.b.32081. Epub 2012 Jul 23.
Am J Med Genet B Neuropsychiatr Genet. 2012.
PMID: 22825934
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From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit.
Hoffman-Zacharska D, Szczepanik E, Terczynska I, Goszczanska-Ciuchta A, Zalewska-Miszkurka Z, Tataj R, Bal J.
Hoffman-Zacharska D, et al. Among authors: zalewska miszkurka z.
Neurol Neurochir Pol. 2015;49(4):258-66. doi: 10.1016/j.pjnns.2015.06.006. Epub 2015 Jun 20.
Neurol Neurochir Pol. 2015.
PMID: 26188943
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Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts.
Oleksy B, Mierzewska H, Tryfon J, Wypchło M, Wasilewska K, Zalewska-Miszkurka Z, Płoski R, Rydzanicz M, Szczepanik E.
Oleksy B, et al. Among authors: zalewska miszkurka z.
Mol Syndromol. 2022 Feb;13(2):132-138. doi: 10.1159/000518941. Epub 2021 Nov 18.
Mol Syndromol. 2022.
PMID: 35418820
Free PMC article.
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