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Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
Wiszniewski W, Gawlinski P, Gambin T, Bekiesinska-Figatowska M, Obersztyn E, Antczak-Marach D, Akdemir ZHC, Harel T, Karaca E, Jurek M, Sobecka K, Nowakowska B, Kruk M, Terczynska I, Goszczanska-Ciuchta A, Rudzka-Dybala M, Jamroz E, Pyrkosz A, Jakubiuk-Tomaszuk A, Iwanowski P, Gieruszczak-Bialek D, Piotrowicz M, Sasiadek M, Kochanowska I, Gurda B, Steinborn B, Dawidziuk M, Castaneda J, Wlasienko P, Bezniakow N, Jhangiani SN, Hoffman-Zacharska D, Bal J, Szczepanik E, Boerwinkle E, Gibbs RA, Lupski JR. Wiszniewski W, et al. Among authors: sasiadek m. Eur J Hum Genet. 2018 Aug;26(8):1121-1131. doi: 10.1038/s41431-018-0137-z. Epub 2018 Apr 30. Eur J Hum Genet. 2018. PMID: 29706646 Free PMC article.
Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies.
Kowalczyk K, Bartnik-Głaska M, Smyk M, Plaskota I, Bernaciak J, Kędzior M, Wiśniowiecka-Kowalnik B, Deperas M, Domaradzka J, Łuszczek A, Dutkiewicz D, Kozar A, Grad D, Niemiec M, Ziemkiewicz K, Magdziak R, Braun-Walicka N, Barczyk A, Geremek M, Castañeda J, Kutkowska-Kaźmierczak A, Własienko P, Jakubów-Durska K, Dębska M, Kucińska-Chahwan A, Kozłowski S, Mikulska B, Issat T, Roszkowski T, Nawara-Baran A, Runge A, Jakubiuk-Tomaszuk A, Kruczek A, Kostyk E, Pietras G, Limon J, Zwoliński J, Ochman K, Szajner T, Węgrzyn P, Wielgoś M, Sąsiadek M, Obersztyn E, Nowakowska BA. Kowalczyk K, et al. Among authors: sasiadek m. Genes (Basel). 2022 Apr 14;13(4):690. doi: 10.3390/genes13040690. Genes (Basel). 2022. PMID: 35456496 Free PMC article.
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.
Smigiel R, Landsberg G, Schilling M, Rydzanicz M, Pollak A, Walczak A, Stodolak A, Stawinski P, Mierzewska H, Sasiadek MM, Gruss OJ, Ploski R. Smigiel R, et al. Among authors: sasiadek mm. Eur J Hum Genet. 2018 Oct;26(10):1502-1511. doi: 10.1038/s41431-018-0179-2. Epub 2018 Jun 13. Eur J Hum Genet. 2018. PMID: 29899372 Free PMC article.
Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.
Midro AT, Zollino M, Wiland E, Panasiuk B, Iwanowski PS, Murdolo M, Śmigiel R, Sąsiadek M, Pilch J, Kurpisz M. Midro AT, et al. Among authors: sasiadek m. J Assist Reprod Genet. 2016 Feb;33(2):189-97. doi: 10.1007/s10815-015-0622-z. Epub 2015 Dec 4. J Assist Reprod Genet. 2016. PMID: 26637389 Free PMC article.
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
Neumann TE, Allanson J, Kavamura I, Kerr B, Neri G, Noonan J, Cordeddu V, Gibson K, Tzschach A, Krüger G, Hoeltzenbein M, Goecke TO, Kehl HG, Albrecht B, Luczak K, Sasiadek MM, Musante L, Laurie R, Peters H, Tartaglia M, Zenker M, Kalscheuer V. Neumann TE, et al. Among authors: sasiadek mm. Eur J Hum Genet. 2009 Apr;17(4):420-5. doi: 10.1038/ejhg.2008.188. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854871 Free PMC article.
Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene.
Klaniewska M, Jedrzejowska M, Rydzanicz M, Paprocka J, Biela M, Wolanska E, Pollak A, Debek E, Sasiadek M, Ploski R, Gos M, Smigiel R. Klaniewska M, et al. Among authors: sasiadek m. Front Genet. 2021 Apr 28;12:620752. doi: 10.3389/fgene.2021.620752. eCollection 2021. Front Genet. 2021. PMID: 33995476 Free PMC article.
320 results