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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: castaneda j. 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.
Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.
Jakubiak A, Szczałuba K, Badura-Stronka M, Kutkowska-Kaźmierczak A, Jakubiuk-Tomaszuk A, Chilarska T, Pilch J, Braun-Walicka N, Castaneda J, Wołyńska K, Wiśniewska M, Kugaudo M, Bielecka M, Pesz K, Wierzba J, Latos-Bieleńska A, Obersztyn E, Krajewska-Walasek M, Śmigiel R. Jakubiak A, et al. Among authors: castaneda j. J Appl Genet. 2021 Sep;62(3):477-485. doi: 10.1007/s13353-021-00636-1. Epub 2021 May 12. J Appl Genet. 2021. PMID: 33982229 Free PMC article.
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
Kutkowska-Kaźmierczak A, Boczar M, Kalka E, Castañeda J, Klapecki J, Pietrzyk A, Barczyk A, Malinowska O, Landowska A, Gambin T, Kowalczyk K, Wiśniowiecka-Kowalnik B, Smyk M, Dawidziuk M, Niepokój K, Paczkowska M, Szyld P, Lipska-Ziętkiewicz B, Szczałuba K, Kostyk E, Runge A, Rutkowska K, Płoski R, Nowakowska B, Bal J, Obersztyn E, Gos M. Kutkowska-Kaźmierczak A, et al. Among authors: castaneda j. Genes (Basel). 2021 Aug 17;12(8):1257. doi: 10.3390/genes12081257. Genes (Basel). 2021. PMID: 34440431 Free PMC article.
Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities.
Kowalczyk K, Bartnik-Głaska M, Smyk M, Plaskota I, Bernaciak J, Kędzior M, Wiśniowiecka-Kowalnik B, Jakubów-Durska K, Braun-Walicka N, Barczyk A, Geremek M, Castañeda J, Kutkowska-Kaźmierczak A, Własienko P, Dębska M, Kucińska-Chahwan A, Roszkowski T, Kozłowski S, Mikulska B, Issat T, Obersztyn E, Nowakowska BA. Kowalczyk K, et al. Among authors: castaneda j. Genes (Basel). 2021 Dec 19;12(12):2021. doi: 10.3390/genes12122021. Genes (Basel). 2021. PMID: 34946970 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: castaneda j. Genes (Basel). 2022 Apr 14;13(4):690. doi: 10.3390/genes13040690. Genes (Basel). 2022. PMID: 35456496 Free PMC article.
246 results