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Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.
Bartnik M, Nowakowska B, Derwińska K, Wiśniowiecka-Kowalnik B, Kędzior M, Bernaciak J, Ziemkiewicz K, Gambin T, Sykulski M, Bezniakow N, Korniszewski L, Kutkowska-Kaźmierczak A, Klapecki J, Szczałuba K, Shaw CA, Mazurczak T, Gambin A, Obersztyn E, Bocian E, Stankiewicz P. Bartnik M, et al. Among authors: bernaciak j. J Appl Genet. 2014 Feb;55(1):125-44. doi: 10.1007/s13353-013-0181-x. Epub 2013 Dec 3. J Appl Genet. 2014. PMID: 24297458 Free PMC article.
The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).
Dawidziuk M, Kutkowska-Kaźmierczak A, Gawliński P, Wiszniewski W, Gos M, Stawiński P, Rydzanicz M, Kosińska J, Własienko P, Malinowska Kordowska O, Bartnik-Głaska M, Bernaciak J, Szczałuba K, Bekiesińska-Figatowska M, Płoski R, Bal J, Olimpia Rzońca-Niewczas S. Dawidziuk M, et al. Among authors: bernaciak j. J Mother Child. 2021 Apr 30;24(3):32-36. doi: 10.34763/jmotherandchild.20202403.2021.d-20-00003. J Mother Child. 2021. PMID: 33930262 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: bernaciak j. Genes (Basel). 2021 Dec 19;12(12):2021. doi: 10.3390/genes12122021. Genes (Basel). 2021. PMID: 34946970 Free PMC article.
Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss.
Kowalczyk K, Smyk M, Bartnik-Głaska M, Plaskota I, Wiśniowiecka-Kowalnik B, Bernaciak J, Chojnacka M, Paczkowska M, Niemiec M, Dutkiewicz D, Kozar A, Magdziak R, Krawczyk W, Pietras G, Michalak E, Klepacka T, Obersztyn E, Bal J, Nowakowska BA. Kowalczyk K, et al. Among authors: bernaciak j. J Assist Reprod Genet. 2022 Feb;39(2):357-367. doi: 10.1007/s10815-022-02400-8. Epub 2022 Jan 26. J Assist Reprod Genet. 2022. PMID: 35079943 Free PMC article.
20 results