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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: kowalczyk k. 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. 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. 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.
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. Genes (Basel). 2022 Apr 14;13(4):690. doi: 10.3390/genes13040690. Genes (Basel). 2022. PMID: 35456496 Free PMC article.
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
Smyk M, Geremek M, Ziemkiewicz K, Gambin T, Kutkowska-Kaźmierczak A, Kowalczyk K, Plaskota I, Wiśniowiecka-Kowalnik B, Bartnik-Głaska M, Niemiec M, Grad D, Piotrowicz M, Gieruszczak-Białek D, Pietrzyk A, Crowley TB, Giunta V, McGinn DE, Zackai EH, Tran O, Emanuel BS, McDonald-McGinn DM, Nowakowska BA. Smyk M, et al. Among authors: kowalczyk k. Genes (Basel). 2023 Mar 9;14(3):680. doi: 10.3390/genes14030680. Genes (Basel). 2023. PMID: 36980952 Free PMC article.
Acromegaly in pregnancy - one step away from neurosurgical procedure.
Pedrys K, Setlak M, Pawlus Z, Jagielski M, Kowalczyk K. Pedrys K, et al. Among authors: kowalczyk k. Ginekol Pol. 2024 May 8. doi: 10.5603/gpl.97745. Online ahead of print. Ginekol Pol. 2024. PMID: 38717221 Free article. No abstract available.
Response to the attached letter to the Editor regarding the article to "Volume of the normal prostate gland in polish boys, aged 1-17 years: Based on transabdominal ultrasound - Prospective study".
Kowalczyk K, Gołuch M, Armata M, Rycielski P, Jurkiewicz E, Szarras-Czapnik M, Gogolewski M, Skobejko-Włodarska L, Strulak K, Oskroba K, Felberg K, Gastoł P. Kowalczyk K, et al. J Pediatr Urol. 2024 Feb 10:S1477-5131(24)00079-2. doi: 10.1016/j.jpurol.2024.02.003. Online ahead of print. J Pediatr Urol. 2024. PMID: 38403512 No abstract available.
Laparoscopic Uterine Preservation and Vaginal Reconstruction in a 13-Year-Old Girl with Uterus Didelphys, Bilateral Vesicovaginal Fistulas, and Transverse Vaginal Septum.
Kudela G, Kowalczyk K, Drosdzol-Cop A, Wiernik A, Olczak Z, Górska M, Machnikowska-Sokołowska M, Koszutski T. Kudela G, et al. Among authors: kowalczyk k. J Pediatr Adolesc Gynecol. 2024 Feb 23:S1083-3188(24)00183-9. doi: 10.1016/j.jpag.2024.02.002. Online ahead of print. J Pediatr Adolesc Gynecol. 2024. PMID: 38401801
267 results